U.S. flag

An official website of the United States government

Women's Health and Genetics/Laboratory Corporation of America (LabCorp), WHG-LC

General information

Women's Health and Genetics/Laboratory Corporation of America, WHG-LC
LabCorp
3400 Computer Drive, Suite 100
Westborough
Massachusetts
United States - 01581
https://www.integratedgenetics.com/
Organization ID: 500026

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 45331

Gene

GeneSubmissionsLast Updated
A2ML1247Nov 14, 2023
A2ML1-AS132Nov 14, 2023
AAAS11Dec 26, 2023
AARS16Dec 26, 2023
AARS24Oct 2, 2023
AASS2Dec 26, 2023
ABAT2Nov 14, 2023
ABCA1134Nov 14, 2023
ABCA1220Oct 2, 2023
ABCA22Jul 29, 2022
ABCA317Jan 26, 2024
ABCA434Jan 26, 2024
ABCA76Jan 26, 2024
ABCB1133Jan 26, 2024
ABCB429Jan 26, 2024
ABCB71Oct 2, 2023
ABCC62Jun 21, 2023
ABCC8143Jan 26, 2024
ABCC979Jan 26, 2024
ABCD141Jan 26, 2024
ABCD417Jan 26, 2024
ABCG542Jan 26, 2024
ABCG873Jan 26, 2024
ABHD14A-ACY12Dec 26, 2023
ABRAXAS185Jan 26, 2024
ACACA1Aug 25, 2023
ACAD82Dec 26, 2023
ACAD927Nov 14, 2023
ACADM77Jan 26, 2024
ACADS13Dec 26, 2023
ACADSB8Jan 26, 2024
ACADVL83Jan 26, 2024
ACAN20Jan 26, 2024
ACAT129Aug 25, 2023
ACAT21Nov 14, 2023
ACBD61Aug 30, 2022
ACD2Jan 26, 2024
ACE1Nov 10, 2022
ACER32Mar 6, 2020
ACOX14Oct 2, 2023
ACOX21Jan 26, 2024
ACP51Dec 14, 2022
ACSF328Jan 26, 2024
ACSL46Nov 14, 2023
ACSM31Dec 26, 2023
ACTA11May 17, 2023
ACTA217Oct 2, 2023
ACTA2-AS14Oct 2, 2023
ACTB3Jul 25, 2023
ACTC134Nov 14, 2023
ACTG12Dec 26, 2023
ACTL6B1Dec 14, 2022
ACTN13Oct 2, 2023
ACTN269Dec 26, 2023
ACVR11Jan 26, 2024
ACVRL15Jun 21, 2023
ACY12Dec 26, 2023
ACYP12Aug 30, 2022
ADA36Jan 26, 2024
ADA22Nov 14, 2023
ADAMTS1312Jan 26, 2024
ADAMTS241Jan 26, 2024
ADAMTSL22Jan 26, 2024
ADAR1Aug 25, 2023
ADAT32Dec 31, 2020
ADCY11Jan 26, 2024
ADCY53Nov 14, 2023
ADD31Oct 27, 2023
ADGRG12Oct 2, 2023
ADGRG61Jul 1, 2020
ADGRL11Dec 26, 2023
ADGRL1-AS11Dec 26, 2023
ADGRV158Jan 26, 2024
ADNP4Oct 27, 2023
ADNP-AS11May 17, 2023
ADRA2B1Mar 6, 2020
ADSL5Dec 26, 2023
ADSS11Nov 14, 2023
AFF24Apr 14, 2023
AFF31Jan 11, 2023
AFF42Jan 26, 2024
AFG2A3Jul 29, 2022
AFG3L211Dec 26, 2023
AGA13Nov 14, 2023
AGA-DT1Jan 25, 2018
AGBL51Jan 11, 2023
AGK1Jan 26, 2024
AGL57Jan 26, 2024
AGO11Oct 27, 2023
AGO22Dec 26, 2023
AGPAT26Jan 26, 2024
AGPS8May 17, 2023
AGRN1Nov 14, 2023
AGXT52Jan 26, 2024
AHCY1Jul 25, 2023
AHDC15Dec 26, 2023
AHI127Jan 26, 2024
AICDA6Jan 26, 2024
AIFM13Sep 14, 2022
AIMP13Dec 26, 2023
AIPL114Oct 2, 2023
AIRE47Nov 14, 2023
AK29Sep 14, 2022
AKAP9112Jan 26, 2024
AKR1D11Nov 14, 2023
AKT33Nov 10, 2022
ALAS21Jan 26, 2024
ALB1Nov 14, 2023
ALDH18A13Jul 25, 2023
ALDH3A235Dec 26, 2023
ALDH4A13Oct 27, 2023
ALDH5A16Oct 2, 2023
ALDH7A120Jan 26, 2024
ALDOB28Aug 25, 2023
ALG119Nov 14, 2023
ALG111Apr 19, 2022
ALG124Oct 13, 2022
ALG132Nov 14, 2023
ALG141May 17, 2023
ALG24Jul 25, 2023
ALG32Jun 21, 2023
ALG610Oct 2, 2023
ALK42Oct 2, 2023
ALMS1289Jan 26, 2024
ALOX12B16Jan 26, 2024
ALOXE310Jan 26, 2024
ALPK12Oct 2, 2023
ALPK346Jan 26, 2024
ALPL93Jan 26, 2024
ALS24Dec 26, 2023
ALX11Jan 11, 2023
ALX42Dec 26, 2023
AMACR1Oct 2, 2023
AMER12Nov 14, 2023
AMH3Aug 25, 2023
AMHR21Oct 2, 2023
AMPD16May 17, 2023
AMPD24Dec 14, 2022
AMT24Dec 26, 2023
ANG1Sep 14, 2022
ANGPT21Mar 11, 2022
ANK11Jun 21, 2023
ANK2139Jan 26, 2024
ANK34Dec 26, 2023
ANKRD126Jan 26, 2024
ANKRD1111Dec 26, 2023
ANKRD171Nov 14, 2023
ANKRD263Jul 25, 2023
ANO103Nov 14, 2023
ANO32Jun 21, 2023
ANO512Dec 26, 2023
ANO610Jan 26, 2024
ANOS12Oct 2, 2023
ANTXR211Oct 2, 2023
AOPEP51Jan 26, 2024
AP1S11Jan 26, 2024
AP1S21Nov 14, 2023
AP3B116Dec 26, 2023
AP3B23Jan 26, 2024
AP3D15Oct 2, 2023
AP4B14Jul 25, 2023
AP4B1-AS12Jul 25, 2023
AP4E12Oct 13, 2022
AP4M14Dec 26, 2023
AP5Z14Nov 14, 2023
APBB12Sep 24, 2019
APC627Jan 26, 2024
APC25Jan 26, 2024
APIP1Dec 21, 2021
APOA117Oct 27, 2023
APOA1-AS11Oct 27, 2023
APOA214Oct 2, 2023
APOA520Oct 2, 2023
APOB32Jan 26, 2024
APOC39Oct 2, 2023
APP13Jan 26, 2024
APP-DT1Nov 14, 2023
APPL12Oct 27, 2023
APTX1Nov 14, 2023
AQP28Nov 14, 2023
AQP5-AS16Nov 14, 2023
AR7Oct 2, 2023
ARCN13Nov 14, 2023
ARF11Nov 14, 2023
ARFGEF15Jan 26, 2024
ARFGEF1-DT2Dec 26, 2023
ARG15Oct 2, 2023
ARHGAP316Oct 27, 2023
ARHGEF102Oct 27, 2023
ARHGEF92Jul 15, 2022
ARID1A6Dec 26, 2023
ARID1B8Jan 26, 2024
ARID24Nov 14, 2023
ARID5A2Oct 27, 2023
ARL13B12Oct 2, 2023
ARL66Apr 14, 2023
ARMC52Dec 26, 2023
ARMC91Oct 27, 2023
ARSA72Jan 26, 2024
ARSB44Oct 27, 2023
ARSL2Apr 7, 2021
ARX8Jan 26, 2024
ASAH15Mar 16, 2023
ASB111Sep 9, 2020
ASH1L8Nov 14, 2023
ASIC4-AS13Nov 14, 2023
ASL46Nov 14, 2023
ASNS18Oct 27, 2023
ASPA39Oct 27, 2023
ASPH1Dec 21, 2021
ASPM9Oct 27, 2023
ASS156Jan 26, 2024
ASTN27May 17, 2023
ASXL19Nov 14, 2023
ASXL23Nov 14, 2023
ASXL35Apr 14, 2023
ATAD3A2Dec 26, 2023
ATIC1Feb 6, 2023
ATL12Jul 25, 2023
ATL33Nov 14, 2023
ATM992Jan 26, 2024
ATN12Jul 25, 2023
ATP11A1Nov 14, 2023
ATP13A216Nov 14, 2023
ATP1A11Aug 30, 2022
ATP1A28Jan 26, 2024
ATP1A38Nov 14, 2023
ATP1B112Oct 2, 2023
ATP2A13Nov 14, 2023
ATP2A21Jan 26, 2024
ATP2B13Dec 26, 2023
ATP2B32Dec 26, 2023
ATP5MK1Oct 6, 2020
ATP6AP11Sep 14, 2022
ATP6AP22Jul 29, 2022
ATP6V0A28Mar 16, 2023
ATP6V0A413Jan 26, 2024
ATP6V1A2Jul 15, 2022
ATP6V1B113Oct 27, 2023
ATP6V1B1-AS11Apr 19, 2022
ATP6V1B21Nov 14, 2023
ATP6V1E11May 17, 2023
ATP7A14Dec 26, 2023
ATP7B325Jan 26, 2024
ATP8A24Dec 14, 2022
ATP8B125Oct 27, 2023
ATP8B1-AS14Oct 27, 2023
ATR12Oct 27, 2023
ATRIP11Oct 27, 2023
ATRIP-TREX111Oct 27, 2023
ATRX20Jan 26, 2024
ATXN71Jan 26, 2024
ATXN7L3-AS12Nov 14, 2023
AUH2Jan 26, 2024
AUTS23Oct 27, 2023
AVEN1Nov 14, 2023
AVIL1Dec 31, 2020
AVPR223Aug 25, 2023
AXDND114Aug 25, 2023
AXIN256Aug 25, 2023
AXL2Jan 26, 2024
B3GALNT22Jul 25, 2023
B3GLCT2Jul 15, 2022
B4GALNT11Jul 25, 2023
B4GALT12Jul 25, 2023
B4GALT71Dec 26, 2023
B9D15Jan 26, 2024
B9D27Oct 2, 2023
BACH21Jan 26, 2024
BAG347Nov 14, 2023
BARD1216Jan 26, 2024
BBS132Jan 26, 2024
BBS1034Oct 2, 2023
BBS1214Jan 26, 2024
BBS236Jan 26, 2024
BBS414Jan 26, 2024
BBS59Jan 26, 2024
BBS75Jan 26, 2024
BBS98Oct 27, 2023
BCHE25Jan 26, 2024
BCKDHA26Jan 26, 2024
BCKDHB36Jan 26, 2024
BCL11A4Dec 26, 2023
BCL11B1Oct 27, 2023
BCL2L2-PABPN11Dec 14, 2022
BCOR2Jan 11, 2023
BCORL17Dec 26, 2023
BCS1L16Oct 2, 2023
BEST11May 17, 2023
BGN19Dec 26, 2023
BICD22Oct 2, 2023
BICRA3Jan 26, 2024
BIVM-ERCC526Aug 25, 2023
BLK6Oct 2, 2023
BLM100Jan 26, 2024
BLOC1S1-RDH51Oct 27, 2023
BLOC1S32Oct 27, 2023
BLOC1S64Dec 26, 2023
BLTP13Oct 2, 2023
BMP17Jan 26, 2024
BMP41Sep 14, 2022
BMPER3Dec 26, 2023
BMPR1A82Jan 26, 2024
BNAT11Nov 14, 2023
BOLA31Aug 25, 2023
BPTF4Jan 26, 2024
BRAF122Jan 26, 2024
BRAT12Jan 26, 2024
BRCA11497Jan 26, 2024
BRCA22584Jan 26, 2024
BRIP1274Jan 26, 2024
BRPF15Jan 26, 2024
BRSK21Jan 26, 2024
BRWD32Jun 21, 2023
BSCL23Oct 2, 2023
BSND13Jan 26, 2024
BTD55Jan 26, 2024
BTK43Dec 26, 2023
BUB1B2Nov 14, 2023
BUB1B-PAK61Jan 11, 2023
BVES1Nov 10, 2022
C10orf1056Jan 26, 2024
C10orf551Oct 13, 2022
C11orf65366Jan 26, 2024
C12orf433Oct 13, 2022
C12orf571Oct 13, 2022
C17orf10712Jan 26, 2024
C19orf1212Jan 26, 2024
C1QTNF3-AMACR1Oct 2, 2023
C1R4Dec 26, 2023
C1S1Oct 13, 2022
C22Jan 26, 2024
C2CD32May 17, 2023
C39Jan 26, 2024
C53Jan 26, 2024
CA21Jan 26, 2024
CA5A2May 17, 2023
CACNA1A34Jan 26, 2024
CACNA1B5Nov 14, 2023
CACNA1C95Jan 26, 2024
CACNA1C-AS138Jan 26, 2024
CACNA1C-AS22Apr 7, 2021
CACNA1D8Jan 26, 2024
CACNA1E6Jan 26, 2024
CACNA1G11Jan 26, 2024
CACNA1H14Dec 26, 2023
CACNA1S25Jan 26, 2024
CACNA2D23Jan 26, 2024
CACNB229Nov 14, 2023
CACNB42Dec 26, 2023
CACNG21Apr 29, 2020
CACNG2-DT1Dec 26, 2023
CAD18Dec 26, 2023
CALCR1Jul 7, 2021
CALM11Aug 25, 2023
CALM22Nov 14, 2023
CALM34Dec 26, 2023
CALR314Oct 2, 2023
CAMK2A4Oct 27, 2023
CAMK2B4Apr 14, 2023
CAMK2G1Aug 25, 2023
CAMK41Jul 1, 2020
CAMTA17Dec 26, 2023
CAPN12Jan 26, 2024
CAPN365Jan 26, 2024
CAPRIN11Dec 26, 2023
CARD111Mar 16, 2023
CARD141Jan 25, 2018
CARS11Oct 27, 2023
CARS25Nov 14, 2023
CASD13Dec 26, 2023
CASK3Jan 26, 2024
CASP147Apr 14, 2023
CASQ13Jan 26, 2024
CASQ222Jan 26, 2024
CASR124Jan 26, 2024
CAT1Dec 26, 2023
CATIP-AS24Nov 14, 2023
CAV328Dec 26, 2023
CBL109Jan 26, 2024
CBS104Jan 26, 2024
CC2D1A8Dec 26, 2023
CC2D2A16Jan 26, 2024
CCBE12May 17, 2023
CCDC1071Mar 6, 2020
CCDC222Jan 26, 2024
CCDC401Jan 25, 2018
CCDC781May 17, 2023
CCDC812Jan 26, 2024
CCDC88C7Dec 26, 2023
CCDST2Feb 9, 2022
CCM24Dec 26, 2023
CCN69Aug 25, 2023
CCND11Oct 2, 2023
CCPG11Nov 14, 2023
CD1642Nov 14, 2023
CD2471Aug 30, 2022
CD364Oct 2, 2023
CD3D3Jan 26, 2024
CD3E9Mar 16, 2023
CD3G7Feb 6, 2023
CD409Nov 10, 2022
CD40LG11Aug 25, 2023
CD464Dec 26, 2023
CD8A2Jul 15, 2022
CDAN13Dec 26, 2023
CDC421Jan 11, 2023
CDC42BPB4Jan 26, 2024
CDC7310Jan 26, 2024
CDCA72Nov 10, 2022
CDH1256Jan 26, 2024
CDH21Nov 10, 2022
CDH2386Jan 26, 2024
CDH23-AS12Dec 26, 2023
CDHR31Apr 14, 2023
CDK136Oct 27, 2023
CDK191Oct 27, 2023
CDK451Nov 14, 2023
CDK5RAP11Mar 6, 2020
CDK5RAP24Sep 14, 2022
CDKL59Jan 26, 2024
CDKN1C1Mar 16, 2023
CDKN2A70Dec 26, 2023
CDKN2A-AS12Mar 16, 2023
CDON2Jan 26, 2024
CDT13Jan 26, 2024
CEACAM161Jul 29, 2022
CEACAM16-AS11Jul 29, 2022
CEL2Nov 14, 2023
CENPE2Dec 26, 2023
CENPF8Nov 14, 2023
CENPJ1Feb 6, 2023
CEP10417Jan 26, 2024
CEP1202Jun 21, 2023
CEP1282Dec 26, 2023
CEP1525Oct 2, 2023
CEP1643Nov 14, 2023
CEP29066Jan 26, 2024
CEP632Oct 2, 2023
CEP85L1Mar 6, 2020
CERKL12Jan 26, 2024
CERS14Oct 2, 2023
CERS34Feb 6, 2023
CERS3-AS11Jan 6, 2022
CERT15Nov 14, 2023
CFAP4181May 17, 2023
CFAP927Aug 25, 2023
CFB3Jun 21, 2023
CFC11Mar 16, 2023
CFH6Dec 26, 2023
CFHR14Oct 2, 2023
CFHR26Nov 14, 2023
CFHR36Aug 25, 2023
CFHR46Dec 26, 2023
CFHR53Feb 9, 2022
CFI8Jan 26, 2024
CFTR1111Jan 26, 2024
CFTR-AS1107Jan 26, 2024
CHAMP12Jan 26, 2024
CHAT19Dec 26, 2023
CHCHD102Dec 26, 2023
CHCHD22Jun 21, 2023
CHD16Jan 26, 2024
CHD25Jan 26, 2024
CHD37Nov 14, 2023
CHD45Nov 14, 2023
CHD56Dec 26, 2023
CHD737Jan 26, 2024
CHD812Dec 26, 2023
CHEK13Jan 25, 2018
CHEK2227Jan 26, 2024
CHKB1Aug 25, 2023
CHKB-CPT1B1Aug 25, 2023
CHL11Oct 27, 2023
CHM1Nov 14, 2023
CHMP1A4Dec 26, 2023
CHMP2B1Sep 14, 2022
CHPT13Feb 26, 2021
CHRNA13Aug 25, 2023
CHRNA26Jan 26, 2024
CHRNA44Dec 26, 2023
CHRNA71Oct 2, 2023
CHRNB12Jul 25, 2023
CHRNB21Jun 21, 2023
CHRNE16Jan 26, 2024
CHRNG11Dec 26, 2023
CHST142Oct 22, 2021
CHST32Jan 26, 2024
CHST68Nov 14, 2023
CIB25Dec 26, 2023
CIC9Nov 14, 2023
CIITA4Oct 27, 2023
CISD21Jul 25, 2023
CITED22Oct 2, 2023
CKAP2L1Jan 26, 2024
CLASP13Aug 25, 2023
CLCF12Jul 15, 2022
CLCN132Jan 26, 2024
CLCN27Jul 25, 2023
CLCN44Dec 26, 2023
CLCN53Nov 14, 2023
CLCN61Feb 6, 2023
CLCN73Nov 14, 2023
CLCNKA2Jan 6, 2022
CLCNKB6Jul 25, 2023
CLDN141Jul 29, 2022
CLDN14-AS11Jul 29, 2022
CLIC22Nov 14, 2023
CLN326Nov 14, 2023
CLN520Dec 26, 2023
CLN622Dec 26, 2023
CLN818Dec 26, 2023
CLP11Dec 14, 2022
CLPB1Nov 14, 2023
CLPP1Dec 26, 2023
CLRN110Jan 26, 2024
CLRN1-AS11Jan 25, 2018
CLTC2Dec 26, 2023
CNGA13Jan 26, 2024
CNGA37Dec 26, 2023
CNGB110Jan 26, 2024
CNGB38Jan 26, 2024
CNKSR21Aug 5, 2021
CNNM21Jan 26, 2024
CNOT14Oct 2, 2023
CNOT21Jul 15, 2022
CNTN21Dec 31, 2020
CNTN41Nov 10, 2022
CNTN61Sep 14, 2022
CNTNAP13Oct 27, 2023
CNTNAP214Jan 26, 2024
CNTNAP51Nov 10, 2020
COASY7Jan 26, 2024
COBL1May 13, 2020
COCH1Jul 25, 2023
COG53Dec 26, 2023
COG61Feb 9, 2022
COG72Nov 14, 2023
COG81Mar 11, 2022
COL10A14Jan 26, 2024
COL11A118Jan 26, 2024
COL11A27Dec 26, 2023
COL12A16Nov 14, 2023
COL17A15Dec 26, 2023
COL18A113Jan 26, 2024
COL1A155Jan 26, 2024
COL1A249Jan 26, 2024
COL27A19Nov 14, 2023
COL2A114Jan 26, 2024
COL3A1126Jan 26, 2024
COL4A114Jan 26, 2024
COL4A216Jan 26, 2024
COL4A2-AS12Nov 14, 2023
COL4A2-AS23Jan 26, 2024
COL4A390Jan 26, 2024
COL4A425Jan 26, 2024
COL4A536Jan 26, 2024
COL4A64Jan 26, 2024
COL5A1143Jan 26, 2024
COL5A284Jan 26, 2024
COL6A110Dec 26, 2023
COL6A29Jan 26, 2024
COL6A320Jan 26, 2024
COL7A167Jan 26, 2024
COL8A21Sep 14, 2022
COL9A16Jan 26, 2024
COL9A212Jan 26, 2024
COL9A38Dec 26, 2023
COLEC111Nov 14, 2023
COLGALT11Nov 14, 2023
COLQ12Jan 26, 2024
COMP1Nov 10, 2022
COPA1May 12, 2022
COQ22Nov 10, 2022
COQ41Jul 25, 2023
COQ71Oct 27, 2023
COQ8A3Nov 14, 2023
COQ92Nov 14, 2023
CORO1A4Dec 26, 2023
COX101Apr 19, 2022
COX1510Jun 21, 2023
COX202Jun 21, 2023
COX6A12Jan 26, 2024
CP16Aug 25, 2023
CPA63Jan 26, 2024
CPEB1-AS13Jan 26, 2024
CPLANE141Jan 26, 2024
CPOX1May 17, 2023
CPS158Jan 26, 2024
CPT1A9Nov 14, 2023
CPT1C6Dec 26, 2023
CPT241Jan 26, 2024
CR21Aug 25, 2023
CRADD1Jan 26, 2024
CRB118Dec 26, 2023
CRB25Oct 27, 2023
CRBN1Mar 6, 2020
CREB3L12Jan 26, 2024
CREBBP10Nov 14, 2023
CRELD11Dec 26, 2023
CRIPT1Aug 30, 2022
CRLF18Aug 25, 2023
CRTAP5Mar 16, 2023
CRYAB3Dec 26, 2023
CRYBA41Oct 6, 2020
CRYBB11Oct 6, 2020
CSDE11Apr 19, 2022
CSF1R3Oct 27, 2023
CSF2RA2Mar 6, 2020
CSNK2B2Jan 11, 2023
CSPP12Dec 26, 2023
CSRP315Nov 14, 2023
CSTB1Oct 13, 2022
CTC112Jan 26, 2024
CTCF5Oct 27, 2023
CTF18Jun 21, 2023
CTNNA22Nov 14, 2023
CTNNA321Jan 26, 2024
CTNNB16Nov 14, 2023
CTNND11Mar 16, 2023
CTNS42Jan 26, 2024
CTNS-AS116Jan 11, 2023
CTSA17Oct 2, 2023
CTSB1Dec 31, 2020
CTSC4Oct 27, 2023
CTSD8Dec 26, 2023
CTSF11Jan 26, 2024
CTSK6Jan 26, 2024
CTXN2-AS14Jan 11, 2023
CUBN1Oct 27, 2023
CUL31Oct 13, 2022
CUL4B2Oct 27, 2023
CUL717Jan 26, 2024
CUX17Dec 26, 2023
CUX24Jun 21, 2023
CWF19L12Dec 26, 2023
CYB561D22Jan 26, 2024
CYB5R32Oct 2, 2023
CYBA10Jan 26, 2024
CYBB34Jan 26, 2024
CYFIP24Aug 25, 2023
CYGB1Mar 11, 2022
CYP11A12Jan 26, 2024
CYP11B142Jan 26, 2024
CYP11B24Nov 14, 2023
CYP17A117Oct 2, 2023
CYP17A1-AS12Sep 14, 2022
CYP19A12Jun 21, 2023
CYP1B144Jan 26, 2024
CYP21A241Jan 26, 2024
CYP24A13Mar 16, 2023
CYP27A127Jan 26, 2024
CYP27B13Oct 2, 2023
CYP2R11Feb 6, 2023
CYP2U11Oct 13, 2022
CYP2U1-AS11Oct 13, 2022
CYP4F2212Oct 2, 2023
CYP7B14Jul 25, 2023
CZ1P-ASNS18Oct 27, 2023
D2HGDH4Jun 21, 2023
DAG12Dec 26, 2023
DARS24Jan 26, 2024
DBH1Jan 26, 2024
DBNL2Oct 27, 2023
DBT24Jan 26, 2024
DCAF176Jul 25, 2023
DCAF84Dec 26, 2023
DCC6Jan 26, 2024
DCHS12Dec 26, 2023
DCLRE1B1Mar 6, 2020
DCLRE1C17Jan 26, 2024
DCPS4Mar 16, 2023
DCTN14Nov 14, 2023
DDB21Mar 16, 2023
DDC11Jan 26, 2024
DDC-AS12Aug 25, 2023
DDHD22Jul 25, 2023
DDR24Oct 2, 2023
DDX113Nov 14, 2023
DDX3X7Jan 26, 2024
DDX64Nov 14, 2023
DEAF15Jan 26, 2024
DENND5A1Jan 11, 2023
DEPDC59Dec 26, 2023
DES39Nov 14, 2023
DES-LCR1Nov 10, 2020
DGKE6Jan 26, 2024
DGUOK8Oct 27, 2023
DGUOK-AS12Oct 2, 2023
DHCR241Jan 11, 2023
DHCR784Jan 26, 2024
DHDDS6Aug 25, 2023
DHODH1Aug 25, 2023
DHTKD113Jan 26, 2024
DHX305Nov 14, 2023
DHX371Oct 2, 2023
DIABLO1Jan 26, 2024
DIAPH12Apr 14, 2023
DIAPH31Feb 6, 2023
DICER11Apr 29, 2020
DIP2B2Oct 27, 2023
DKC11May 12, 2022
DLAT5Jul 25, 2023
DLD9May 17, 2023
DLG34Jan 26, 2024
DLG47Jan 26, 2024
DLL13Jan 11, 2023
DLL31Apr 24, 2019
DLL41Oct 6, 2020
DMAC2L1Jul 25, 2023
DMD338Jan 26, 2024
DMP11Dec 26, 2023
DMPK1Jan 11, 2023
DMXL23Dec 26, 2023
DNA211Jan 26, 2024
DNAAF32Jan 6, 2022
DNAAF3-AS11Jan 6, 2022
DNAAF4-CCPG11Nov 14, 2023
DNAH54Jan 26, 2024
DNAH72Mar 6, 2020
DNAH91Oct 13, 2022
DNAI22Aug 25, 2023
DNAJB61Dec 26, 2023
DNAJC196May 17, 2023
DNAJC51Jul 25, 2023
DNAJC61Jan 26, 2024
DNASE11Jan 26, 2024
DNASE1L11Aug 18, 2011
DNM16Jan 26, 2024
DNM1L5Jan 26, 2024
DNM22Dec 26, 2023
DNMT13Nov 14, 2023
DNMT3A1Dec 26, 2023
DNMT3B5Jan 26, 2024
DOCK32Sep 9, 2020
DOCK62Mar 16, 2023
DOCK76Jan 26, 2024
DOCK828Jan 26, 2024
DOCK8-AS12Mar 11, 2022
DOK721Dec 26, 2023
DOLK12Dec 26, 2023
DONSON2Jun 21, 2023
DOP1A2Apr 14, 2023
DOT1L1Jan 26, 2024
DPAGT12Mar 16, 2023
DPH14Dec 26, 2023
DPM12Jun 21, 2023
DPM22Aug 25, 2023
DPP63Oct 27, 2023
DPYD63Dec 26, 2023
DPYD-AS17Apr 14, 2023
DPYSL51May 17, 2023
DRD21Oct 2, 2023
DSC275Jan 26, 2024
DSCAS1Sep 9, 2020
DSG279Jan 26, 2024
DSG2-AS128Jan 26, 2024
DSP197Jan 26, 2024
DSP-AS19Nov 14, 2023
DSPP4Jan 26, 2024
DST2Jan 26, 2024
DST-AS11Jan 26, 2024
DSTYK1Apr 14, 2023
DTNA41Oct 2, 2023
DTNBP16Jan 26, 2024
DUOX220Jan 26, 2024
DUOXA11Jul 25, 2023
DUOXA26Dec 26, 2023
DVL12Oct 2, 2023
DVL31Jul 25, 2023
DYM1Nov 10, 2022
DYNC1H115Jan 26, 2024
DYNC2H130Jan 26, 2024
DYNC2I21May 17, 2023
DYNC2LI118Jan 26, 2024
DYRK1A8Oct 2, 2023
DYSF70Jan 26, 2024
EARS25Jan 26, 2024
EBF35Nov 14, 2023
ECHS13Aug 25, 2023
EDA8Dec 26, 2023
EDC31Jan 26, 2024
EDN32Nov 14, 2023
EDNRA1Dec 26, 2023
EDNRB1Mar 6, 2020
EDNRB-AS11Mar 6, 2020
EEF1A22Apr 19, 2022
EEF23Nov 14, 2023
EEF2KMT4Feb 6, 2023
EFEMP232Jan 26, 2024
EFHC12May 17, 2023
EFNB11May 13, 2020
EFNB21Mar 6, 2020
EFTUD23Jan 26, 2024
EGF3Nov 14, 2023
EGILA1Sep 14, 2022
EGR21Mar 11, 2022
EHHADH1Oct 27, 2023
EHMT18Dec 26, 2023
EIF2AK12Oct 2, 2023
EIF2AK21Aug 30, 2022
EIF2AK32Dec 26, 2023
EIF2B17Aug 25, 2023
EIF2B210Jan 26, 2024
EIF2B39Jan 26, 2024
EIF2B47Jan 26, 2024
EIF2B512Jan 26, 2024
EIF3F2Oct 2, 2023
EIF4G11Jan 26, 2024
ELAC23Aug 25, 2023
ELMOD31Oct 13, 2022
ELN9Aug 25, 2023
ELN-AS11May 17, 2023
ELOVL43Dec 26, 2023
ELOVL51Aug 30, 2022
ELP139Jan 26, 2024
ELP21Apr 19, 2022
EMC12May 17, 2023
EMC1-AS11May 17, 2023
EMD20Jan 26, 2024
EME21Sep 14, 2022
ENG10Jan 26, 2024
ENPP14Nov 14, 2023
EP3009Dec 26, 2023
EP4001Feb 9, 2021
EPB41L13Dec 26, 2023
EPB422Jan 26, 2024
EPCAM13Oct 2, 2023
EPG52Dec 26, 2023
EPHA31Feb 26, 2021
EPHB42Jan 26, 2024
EPS8L22Jul 25, 2023
ERBB33Oct 27, 2023
ERBB43Aug 25, 2023
ERCC236Jan 26, 2024
ERCC310Jan 26, 2024
ERCC414Jan 26, 2024
ERCC527Aug 25, 2023
ERCC636Jan 26, 2024
ERCC6L21Oct 2, 2023
ERCC814Jan 26, 2024
ERCC8-AS11Jan 11, 2023
ERF2Jul 25, 2023
ERMARD2Jul 15, 2022
ESCO21May 17, 2023
ETFA9Jan 26, 2024
ETFB6Dec 26, 2023
ETFDH36Jan 26, 2024
ETHE117Nov 14, 2023
ETV64Jan 26, 2024
EVC13Jan 26, 2024
EVC27Dec 26, 2023
EXOSC312Oct 2, 2023
EXOSC91Nov 10, 2022
EXT11Apr 24, 2019
EXT21Mar 11, 2022
EYA11Nov 14, 2023
EYA435Oct 2, 2023
EYS103Jan 26, 2024
F1115Dec 26, 2023
F11-AS13Nov 14, 2023
F121Jan 26, 2024
F13A112Jan 26, 2024
F13B4Jan 26, 2024
F22Oct 2, 2023
F79Dec 26, 2023
F839Jan 26, 2024
F929Jan 26, 2024
FA2H13Nov 14, 2023
FADD1Nov 14, 2023
FAH26Dec 26, 2023
FAM111A2Oct 2, 2023
FAM111B1Nov 16, 2021
FAM149B11Aug 25, 2023
FAM161A7Apr 14, 2023
FAM20A6Feb 6, 2023
FAM20C2Nov 14, 2023
FAN11Jul 25, 2023
FANCA64Jan 26, 2024
FANCB4Jul 15, 2022
FANCC79Jan 26, 2024
FANCD228Jan 26, 2024
FANCD2OS5Jan 26, 2024
FANCE7Jan 26, 2024
FANCF11Jan 26, 2024
FANCG9Jan 26, 2024
FANCI18Jan 26, 2024
FANCL14Jan 26, 2024
FARS24Jan 26, 2024
FASLG1Dec 26, 2023
FASN1Nov 14, 2023
FASTKD22Jun 21, 2023
FAT217Jan 26, 2024
FAT414Dec 26, 2023
FBLIM11Oct 13, 2022
FBN1652Jan 26, 2024
FBN2118Jan 26, 2024
FBP13Dec 26, 2023
FBXL316Dec 26, 2023
FBXL47Apr 14, 2023
FBXO114Aug 25, 2023
FBXO384Jan 26, 2024
FBXW111Apr 19, 2022
FBXW72Nov 14, 2023
FCN31Aug 25, 2023
FCSK5Oct 27, 2023
FDFT13Jan 26, 2024
FECH4Jul 25, 2023
FERMT34Oct 27, 2023
FEZF11Jan 26, 2024
FGA10Jan 26, 2024
FGB10Jan 26, 2024
FGD14Dec 26, 2023
FGD42Jan 11, 2023
FGF131Nov 14, 2023
FGF141Nov 10, 2022
FGF235Oct 27, 2023
FGF32Dec 26, 2023
FGFR112Dec 26, 2023
FGFR23Dec 26, 2023
FGFR317Jan 26, 2024
FGG12Jan 26, 2024
FH20Oct 27, 2023
FHL111Jan 26, 2024
FIG44Oct 2, 2023
FKBP106Oct 2, 2023
FKBP142Oct 27, 2023
FKBP14-AS12Oct 27, 2023
FKRP29Jan 26, 2024
FKTN37Nov 14, 2023
FLAD11Oct 13, 2022
FLCN28Oct 2, 2023
FLG2Feb 9, 2022
FLI11Dec 26, 2023
FLNA97Jan 26, 2024
FLNB9Nov 14, 2023
FLNC112Jan 26, 2024
FLNC-AS135Jan 26, 2024
FLRT31Nov 14, 2023
FLT43Oct 27, 2023
FLVCR12Oct 27, 2023
FMN22Jan 26, 2024
FMO310Jan 26, 2024
FMR12Jul 25, 2023
FN12Dec 26, 2023
FOXE11Jul 25, 2023
FOXE317Oct 2, 2023
FOXG12May 17, 2023
FOXH14Aug 25, 2023
FOXN15Dec 26, 2023
FOXP15Feb 6, 2023
FOXP23Oct 27, 2023
FOXP38Jan 26, 2024
FOXRED110Jan 26, 2024
FRA10AC11Dec 26, 2023
FRAS137Jan 26, 2024
FREM11Jan 26, 2024
FREM220Jan 26, 2024
FRMD4A1Aug 25, 2023
FRMD52Jan 26, 2024
FRMPD47Nov 14, 2023
FTCD4Nov 14, 2023
FTL5Dec 26, 2023
FTSJ11Jun 21, 2023
FUCA115Oct 27, 2023
FXN1Nov 10, 2022
FXYD21Jan 26, 2024
FXYD6-FXYD21Jan 26, 2024
G6PC138Jan 26, 2024
G6PC31Aug 25, 2023
G6PD18Jan 26, 2024
GAA231Jan 26, 2024
GABBR23Dec 26, 2023
GABRA12Jan 26, 2024
GABRA31Dec 26, 2023
GABRA51Dec 21, 2021
GABRB31Aug 25, 2023
GABRD1Jan 26, 2024
GABRG22Dec 14, 2022
GABRQ1Jul 25, 2023
GAD11Apr 14, 2023
GAL3ST41Nov 10, 2020
GALC83Jan 26, 2024
GALE14Jan 26, 2024
GALK113Jul 25, 2023
GALNS76Jan 26, 2024
GALNT31Nov 14, 2023
GALT155Jan 26, 2024
GAMT25Jan 26, 2024
GAREM220Jun 21, 2023
GARS13Jan 26, 2024
GATA11Jan 26, 2024
GATA21Jan 26, 2024
GATA31Jul 29, 2022
GATA45Jan 26, 2024
GATA52Oct 2, 2023
GATA64May 17, 2023
GATAD113Dec 26, 2023
GATAD2B2Nov 10, 2022
GATM4Nov 14, 2023
GBA1116Jan 26, 2024
GBA23Apr 14, 2023
GBE129Dec 26, 2023
GCDH70Jan 26, 2024
GCH13Apr 14, 2023
GCK191Jan 26, 2024
GCM23Jan 26, 2024
GDAP110Nov 14, 2023
GDF14Oct 2, 2023
GDF111Feb 6, 2023
GDF52Nov 10, 2022
GDF5-AS11Nov 10, 2022
GDI14Jul 15, 2022
GEMIN42Sep 14, 2022
GEMIN54Oct 27, 2023
GFAP10Nov 14, 2023
GFER2Dec 26, 2023
GFI11Jun 17, 2021
GFI1B4Oct 2, 2023
GFM19Nov 14, 2023
GFM21Oct 2, 2023
GFPT111Jan 26, 2024
GH-LCR14Jan 26, 2024
GH17Jan 26, 2024
GHR9Dec 26, 2023
GHRHR9Dec 26, 2023
GHSR2Jan 26, 2024
GIGYF21Nov 14, 2023
GINS32Mar 6, 2020
GJA13Oct 2, 2023
GJB15Dec 26, 2023
GJB2142Jan 26, 2024
GJB31Dec 14, 2022
GJB67Oct 2, 2023
GJC22Aug 25, 2023
GJD2-DT34Nov 14, 2023
GLA197Jan 26, 2024
GLB148Oct 27, 2023
GLDC65Jan 26, 2024
GLDN1Dec 26, 2023
GLE13Aug 25, 2023
GLI13Jan 26, 2024
GLI215Jan 26, 2024
GLI31Dec 26, 2023
GLRA13Nov 14, 2023
GLRA21Dec 26, 2023
GLRB2Dec 14, 2022
GLUD14Dec 26, 2023
GLYCTK2Jan 11, 2023
GML17Oct 18, 2019
GMNN1Jan 26, 2024
GMPPA2Oct 27, 2023
GMPPB4Nov 14, 2023
GNA111Oct 2, 2023
GNAI11Nov 14, 2023
GNAI31Apr 29, 2020
GNAL2Dec 26, 2023
GNAO11Apr 14, 2023
GNAS5Jan 26, 2024
GNB14Jan 26, 2024
GNB42Dec 26, 2023
GNB52Nov 10, 2022
GNE34Nov 14, 2023
GNPAT4Aug 25, 2023
GNPTAB60Oct 2, 2023
GNPTG4Jan 26, 2024
GNRHR5Oct 2, 2023
GNS4Jun 21, 2023
GORAB1Jul 29, 2022
GOSR21Jun 21, 2023
GP1BA13Jan 26, 2024
GP1BB3Dec 26, 2023
GP68Jan 26, 2024
GP98Jan 26, 2024
GPAA12Oct 13, 2022
GPC37Oct 22, 2021
GPC42Oct 2, 2023
GPD1L13Mar 16, 2023
GPHN19Jan 26, 2024
GPI1Jun 21, 2023
GPR1432Jun 21, 2023
GPT21Jul 25, 2023
GRAP1Oct 2, 2023
GREB1L3Oct 2, 2023
GRHL21Jan 26, 2024
GRHPR13Jan 26, 2024
GRIA11Jan 26, 2024
GRIA34Nov 14, 2023
GRIA43Oct 27, 2023
GRID22Nov 10, 2022
GRIK21Aug 25, 2023
GRIN17Dec 26, 2023
GRIN2A9Jan 26, 2024
GRIN2B6Dec 26, 2023
GRIN2D7Nov 14, 2023
GRIP18Jan 26, 2024
GRM13Jan 26, 2024
GRN5Dec 26, 2023
GRXCR11Dec 2, 2020
GSC2Jan 26, 2024
GSEC2Mar 16, 2023
GSN4Jan 26, 2024
GSS16Oct 2, 2023
GTF2IRD12Jan 26, 2024
GTF3C2-AS25Jan 26, 2024
GTPBP34Oct 27, 2023
GUCY2D6Dec 26, 2023
GUF16Jan 26, 2024
GUSB27Jan 26, 2024
GYG14Nov 14, 2023
GYS12Dec 26, 2023
GYS23Jun 21, 2023
H1-41Nov 14, 2023
H3-3B1Dec 26, 2023
HABP21Dec 26, 2023
HADH2Dec 26, 2023
HADHA38Nov 14, 2023
HADHB11Nov 14, 2023
HAL1Jul 25, 2023
HAMP2Apr 14, 2023
HAND12Nov 14, 2023
HARS15Aug 25, 2023
HAX14Mar 16, 2023
HBA-LCR2Jan 11, 2023
HBA19Nov 14, 2023
HBA216Jan 26, 2024
HBB354Jan 26, 2024
HCFC110Nov 14, 2023
HCN11Nov 14, 2023
HCN21Nov 14, 2023
HCN419Jan 26, 2024
HDAC21Dec 31, 2020
HDAC84Jan 26, 2024
HEATR31Oct 2, 2023
HECW27Dec 26, 2023
HELLS2Dec 26, 2023
HEPACAM7Nov 14, 2023
HEPHL11Sep 14, 2022
HERC15Dec 14, 2022
HERC27Jan 26, 2024
HESX11Dec 26, 2023
HEXA104Jan 26, 2024
HEXA-AS15Jul 29, 2022
HEXB57Jan 26, 2024
HFE18Nov 14, 2023
HFE-AS16Jun 21, 2023
HGD3Aug 25, 2023
HGSNAT44Oct 2, 2023
HIBCH1Dec 26, 2023
HINT11Jun 21, 2023
HIVEP214Dec 26, 2023
HJV7Jan 26, 2024
HK13Aug 25, 2023
HLCS24Jan 26, 2024
HMBS8Jan 26, 2024
HMGCL16Jan 26, 2024
HMGCS21Jun 21, 2023
HNF1A95Jan 26, 2024
HNF1B33Oct 2, 2023
HNF4A50Nov 14, 2023
HNMT1Dec 26, 2023
HNRNPA2B11Oct 27, 2023
HNRNPDL3Nov 14, 2023
HNRNPH11Jan 26, 2024
HNRNPH22Jul 29, 2022
HNRNPU1Aug 25, 2023
HNRNPUL2-BSCL23Oct 2, 2023
HOGA111Dec 26, 2023
HOMER21Jan 26, 2024
HOPX4Mar 6, 2020
HOXB1314Oct 27, 2023
HOXD131Dec 26, 2023
HPD12Jan 26, 2024
HPRT13Jan 26, 2024
HPS116Jan 26, 2024
HPS38Jan 26, 2024
HPS419Jan 26, 2024
HPS518Jan 26, 2024
HPS616Dec 26, 2023
HRAS44Oct 2, 2023
HRG2Jan 26, 2024
HRG-AS11Oct 2, 2023
HS6ST12Mar 16, 2023
HS6ST22Oct 2, 2023
HSD11B22Jun 21, 2023
HSD17B103Jan 26, 2024
HSD17B31Aug 25, 2023
HSD17B427Jan 26, 2024
HSD3B215Jan 26, 2024
HSERVPRODH1Nov 14, 2023
HSF41Sep 14, 2022
HSPB12Oct 27, 2023
HSPB31Nov 14, 2023
HSPD15Dec 26, 2023
HSPG24Oct 27, 2023
HTR1A1Apr 19, 2022
HTRA14Jan 26, 2024
HUWE115Nov 14, 2023
HYAL13Mar 16, 2023
HYCC13May 17, 2023
HYI1Nov 14, 2023
HYLS15Dec 26, 2023
IARS12Nov 14, 2023
IBA574May 17, 2023
IDH22Jan 26, 2024
IDS22Dec 26, 2023
IDUA90Jan 26, 2024
IFIH15Nov 14, 2023
IFITM53Jan 26, 2024
IFNAR11Oct 2, 2023
IFNGR118Jan 26, 2024
IFNGR25Oct 27, 2023
IFT1223Oct 27, 2023
IFT14022Jan 26, 2024
IFT1721Apr 19, 2022
IFT271Dec 26, 2023
IFT801Dec 31, 2020
IFT811Jan 26, 2024
IGF1R7Jan 26, 2024
IGF22Dec 26, 2023
IGFALS8Jan 26, 2024
IGHMBP29Nov 14, 2023
IKBKB6Apr 14, 2023
IKBKG10Jan 26, 2024
IL17RD2Jun 21, 2023
IL1RAPL11Oct 27, 2023
IL2RG18Jan 26, 2024
IL4I12Mar 6, 2020
IL7R17Jan 26, 2024
INF24Jan 26, 2024
INPP5E20Oct 27, 2023
INS8Oct 27, 2023
INS-IGF210Dec 26, 2023
INSR3Dec 26, 2023
INTS11Oct 2, 2023
INTS82Nov 14, 2023
INVS1Oct 2, 2023
IQSEC26Dec 26, 2023
IRAIN1May 12, 2022
IRAK1BP12Nov 14, 2023
IRF2BPL3Nov 14, 2023
IRF33Nov 14, 2023
IRF61Aug 30, 2022
IRF81Mar 6, 2020
ISCA21Oct 2, 2023
ITGA2B16Jan 26, 2024
ITGA73Oct 2, 2023
ITGB36Jan 26, 2024
ITM2B2Aug 25, 2023
ITPA7Dec 26, 2023
ITPR19Jan 26, 2024
IVD22Nov 14, 2023
IYD1Aug 25, 2023
JAG117Oct 2, 2023
JAK22Dec 26, 2023
JAK327Jan 26, 2024
JARID21Aug 25, 2023
JPH11Dec 26, 2023
JPH212Jan 26, 2024
JPH31Nov 14, 2023
JUP83Jan 26, 2024
KANK13Jan 11, 2023
KANSL16Dec 26, 2023
KARS11Dec 26, 2023
KAT51May 17, 2023
KAT6A8Dec 26, 2023
KAT6B7Nov 14, 2023
KATNIP8Dec 26, 2023
KBTBD136Dec 26, 2023
KCNA12Aug 25, 2023
KCNA58Dec 26, 2023
KCNB13Jan 26, 2024
KCNC12Oct 27, 2023
KCNC34Jan 26, 2024
KCND23Dec 26, 2023
KCND38Oct 27, 2023
KCNE110Oct 27, 2023
KCNE27Sep 1, 2021
KCNE31May 17, 2023
KCNE51May 17, 2023
KCNH11Jan 26, 2024
KCNH293Jan 26, 2024
KCNH51Jan 26, 2024
KCNJ111Jul 25, 2023
KCNJ1111Oct 27, 2023
KCNJ211Jan 26, 2024
KCNJ58Jan 26, 2024
KCNJ82Jan 26, 2024
KCNK91Mar 6, 2020
KCNMA15Dec 26, 2023
KCNMA1-AS13Dec 26, 2023
KCNN32Nov 14, 2023
KCNQ192Jan 26, 2024
KCNQ1-AS19Aug 25, 2023
KCNQ1OT17Jul 15, 2022
KCNQ210Nov 14, 2023
KCNQ36Dec 26, 2023
KCNQ43Nov 14, 2023
KCNQ53Jan 26, 2024
KCNT16Jan 26, 2024
KCNT23Dec 26, 2023
KCTD171Oct 27, 2023
KCTD79May 17, 2023
KDM1A3Nov 14, 2023
KDM3B4Jul 25, 2023
KDM4B2Oct 2, 2023
KDM5B2Jun 21, 2023
KDM5C7Jan 26, 2024
KDM6A8Jan 26, 2024
KDM6B4Jan 26, 2024
KIAA05867Jan 26, 2024
KIAA07531Apr 19, 2022
KIDINS2205Jan 26, 2024
KIF114Oct 27, 2023
KIF1416Aug 25, 2023
KIF1A16Jan 26, 2024
KIF1B7Jan 26, 2024
KIF21A2Nov 14, 2023
KIF2A2Jan 26, 2024
KIF4A5Jan 26, 2024
KIF5A8Jan 26, 2024
KIF5C5Jan 26, 2024
KIF74Aug 25, 2023
KIRREL27Jul 29, 2022
KISS1R3Nov 14, 2023
KITLG1Aug 25, 2023
KLF113Oct 2, 2023
KLF9-DT1Nov 14, 2023
KLHL152Oct 2, 2023
KLHL31Nov 14, 2023
KLLN25Jan 26, 2024
KMT2A11Jan 26, 2024
KMT2B10Jan 26, 2024
KMT2C26Dec 26, 2023
KMT2D13Jan 26, 2024
KMT2E5Nov 14, 2023
KMT5B1Aug 5, 2021
KNG11Oct 2, 2023
KNL11Aug 25, 2023
KPNA31Oct 2, 2023
KPTN1Aug 25, 2023
KRAS31Oct 2, 2023
KRIT11Dec 26, 2023
KRT141Mar 6, 2020
KRT81Jan 26, 2024
KY1Oct 2, 2023
KYNU2Dec 26, 2023
L1CAM30Dec 26, 2023
L2HGDH3Nov 14, 2023
LAMA119Dec 26, 2023
LAMA254Jan 26, 2024
LAMA323Mar 16, 2023
LAMA448Jan 26, 2024
LAMA4-AS12Nov 14, 2023
LAMA53Oct 2, 2023
LAMB11Dec 26, 2023
LAMB21Oct 27, 2023
LAMB348Jan 26, 2024
LAMC215May 17, 2023
LAMC35Jun 21, 2023
LAMP218Jan 26, 2024
LARGE11Nov 14, 2023
LARP71Aug 25, 2023
LARS115Dec 26, 2023
LAS1L2Feb 6, 2023
LCA59Jan 26, 2024
LCK1Dec 14, 2022
LCP21Jan 26, 2024
LCT2Apr 29, 2020
LDB374Jan 26, 2024
LDLR312Jan 26, 2024
LDLR-AS14Dec 14, 2022
LDLRAD21Oct 27, 2023
LDLRAP151Jan 26, 2024
LEPR3Aug 18, 2011
LETM12Jan 26, 2024
LGI11Apr 14, 2023
LHCGR4Dec 26, 2023
LHX34Jan 26, 2024
LHX43Oct 27, 2023
LHX4-AS11Aug 30, 2022
LIAS2Nov 14, 2023
LIFR5Jan 26, 2024
LIG344Jan 26, 2024
LIG410Nov 14, 2023
LINC0138917Oct 2, 2023
LINS13Dec 26, 2023
LIPA16Jan 26, 2024
LIPE1Jan 26, 2024
LIPE-AS11Jan 26, 2024
LIPN7Jan 26, 2024
LIPT11Oct 13, 2022
LITAF1Mar 16, 2023
LIX1L-AS12May 17, 2023
LMAN2L1Mar 11, 2022
LMBRD14Mar 16, 2023
LMBRD21Oct 27, 2023
LMNA68Jan 26, 2024
LMNB13Dec 26, 2023
LMX1B1Dec 26, 2023
LOC1001305871Feb 9, 2021
LOC1001309872Jul 15, 2022
LOC1005073469May 17, 2023
LOC10144820229Jan 26, 2024
LOC10192705529Oct 27, 2023
LOC1019271573Jan 26, 2024
LOC1019271781Oct 27, 2023
LOC1019271881Dec 26, 2023
LOC1019275211Oct 2, 2023
LOC1019283352Jan 26, 2024
LOC1019283711Oct 2, 2023
LOC1019285251Feb 6, 2023
LOC1019289651Jun 21, 2023
LOC1019292703Aug 25, 2023
LOC1019293052Feb 6, 2023
LOC1019300711Jan 26, 2024
LOC1027235662Jan 26, 2024
LOC10272405838Dec 26, 2023
LOC10537104610Jun 21, 2023
LOC1053715665Oct 2, 2023
LOC1053727917Sep 1, 2021
LOC1053783113May 17, 2023
LOC1060293122Oct 13, 2022
LOC1060501028Nov 14, 2023
LOC106099062223Jan 26, 2024
LOC1065017122Jan 6, 2022
LOC1065017136Jul 25, 2023
LOC106627981109Jan 26, 2024
LOC1067366141Aug 18, 2011
LOC10678080040Jan 26, 2024
LOC1067808032Dec 26, 2023
LOC10679983330Jan 26, 2024
LOC1067998343Nov 14, 2023
LOC10680461216Jan 26, 2024
LOC1068046139Nov 14, 2023
LOC107133510350Jan 26, 2024
LOC10730333821Jan 26, 2024
LOC10730334057Oct 27, 2023
LOC1073033433Mar 11, 2022
LOC1074575851Aug 25, 2023
LOC1076524459May 17, 2023
LOC1079822347May 17, 2023
LOC1079842811Jul 15, 2022
LOC1079880325Jan 26, 2024
LOC1084918258Oct 2, 2023
LOC1094614841Apr 29, 2020
LOC1096106313Jan 26, 2024
LOC110006319134Jan 26, 2024
LOC1100112165May 17, 2023
LOC1101211211Feb 6, 2023
LOC11012126918Oct 2, 2023
LOC11012128812Jan 26, 2024
LOC1101214714Nov 14, 2023
LOC1106314171Apr 14, 2023
LOC1116744632Aug 30, 2022
LOC11167447297Jan 26, 2024
LOC11167447536Dec 26, 2023
LOC11167447731Dec 26, 2023
LOC1117184932Jan 26, 2024
LOC1119828693Jan 11, 2023
LOC1122726211Mar 6, 2020
LOC1124862231Nov 14, 2023
LOC1125298951Jul 25, 2023
LOC1125336723Jul 25, 2023
LOC1125775171Aug 30, 2022
LOC1128409213May 17, 2023
LOC1129975401Jul 29, 2022
LOC1136338751Jan 25, 2018
LOC1136338772Apr 24, 2019
LOC11366410610Jan 26, 2024
LOC1136871751May 17, 2023
LOC1137882691Aug 25, 2023
LOC1139399449Aug 25, 2023
LOC1148034702Jan 26, 2024
LOC1148278278Mar 16, 2023
LOC1148278502Aug 25, 2023
LOC11482785110Jan 26, 2024
LOC1170387951Oct 22, 2021
LOC1171255871Aug 25, 2023
LOC1171255945Jan 26, 2024
LOC1211753502Oct 2, 2023
LOC1213313401Apr 14, 2023
LOC1217406381Dec 26, 2023
LOC1218159741Jun 21, 2023
LOC1220568031Dec 26, 2023
LOC1221522967Jan 26, 2024
LOC1227871371Mar 11, 2022
LOC1238640652Jan 26, 2024
LOC1239562109Dec 26, 2023
LOC1239562571Aug 25, 2023
LOC1244184212Jun 21, 2023
LOC1246294231Jan 11, 2023
LOC1249038271Oct 2, 2023
LOC1251773934Jan 26, 2024
LOC1254462614Jan 26, 2024
LOC1254677681Jan 26, 2024
LOC1266533301Jan 26, 2024
LOC1268055862Nov 14, 2023
LOC1268056612Jul 29, 2022
LOC1268057041Apr 14, 2023
LOC1268057931Oct 27, 2023
LOC1268057942Jul 25, 2023
LOC1268058221Dec 14, 2022
LOC1268058512May 17, 2023
LOC1268058776Oct 2, 2023
LOC1268058903Jan 26, 2024
LOC1268059163Jan 26, 2024
LOC1268060391Nov 14, 2023
LOC1268060677Aug 30, 2022
LOC12680606817Oct 27, 2023
LOC1268061042Aug 25, 2023
LOC1268061712Oct 13, 2022
LOC1268061722Jul 15, 2022
LOC12680625214Oct 27, 2023
LOC1268062531Nov 14, 2023
LOC1268063682Mar 16, 2023
LOC1268063732May 17, 2023
LOC1268064002Mar 16, 2023
LOC12680642012Dec 26, 2023
LOC12680642112Jan 26, 2024
LOC12680642221Jan 26, 2024
LOC12680642314Dec 26, 2023
LOC12680642417Oct 2, 2023
LOC12680642515May 17, 2023
LOC12680642610Jul 25, 2023
LOC12680642721Nov 14, 2023
LOC12680642815Dec 26, 2023
LOC1268064297Dec 26, 2023
LOC12680643017Jan 26, 2024
LOC12680643118Dec 26, 2023
LOC1268064339Aug 25, 2023
LOC1268064462Jul 25, 2023
LOC1268064621Oct 27, 2023
LOC1268064841Jun 21, 2023
LOC1268064991Feb 6, 2023
LOC1268065162Mar 11, 2022
LOC1268065831Aug 25, 2023
LOC1268065901Mar 16, 2023
LOC1268066302Dec 26, 2023
LOC1268066582Jul 25, 2023
LOC1268066591Apr 14, 2023
LOC1268067914Mar 11, 2022
LOC1268068071Sep 14, 2022
LOC1268068781Oct 27, 2023
LOC1268069131Jan 26, 2024
LOC1268069611Dec 26, 2023
LOC1268070891Mar 11, 2022
LOC12680713610Apr 14, 2023
LOC12680713714Jan 26, 2024
LOC1268072381Jul 29, 2022
LOC1268072462May 17, 2023
LOC1268073221Nov 14, 2023
LOC1268073231Mar 16, 2023
LOC1268074652Dec 26, 2023
LOC1268075012Oct 2, 2023
LOC1268596461Apr 14, 2023
LOC1268596534Apr 14, 2023
LOC1268596909Jul 25, 2023
LOC1268597661Jan 26, 2024
LOC1268597961Sep 14, 2022
LOC1268598273Oct 27, 2023
LOC1268598611Jul 25, 2023
LOC1268600552Oct 2, 2023
LOC1268600752Aug 25, 2023
LOC1268601251Jan 26, 2024
LOC1268601261Jul 15, 2022
LOC1268601301Aug 30, 2022
LOC1268602027Jan 26, 2024
LOC1268603421Jul 15, 2022
LOC1268604031Mar 6, 2020
LOC1268604387Jul 25, 2023
LOC1268604695Nov 14, 2023
LOC1268604981Jan 6, 2022
LOC1268605522Aug 25, 2023
LOC1268607946Dec 26, 2023
LOC1268608021Apr 14, 2023
LOC1268608751Oct 2, 2023
LOC1268609332Aug 30, 2022
LOC1268611062Apr 14, 2023
LOC1268611092Jan 26, 2024
LOC1268612423Jul 25, 2023
LOC1268612441Mar 16, 2023
LOC1268612581Nov 14, 2023
LOC1268613182Jul 29, 2022
LOC1268613391Jan 25, 2018
LOC1268613563Dec 26, 2023
LOC1268613585Sep 14, 2022
LOC1268614432Jan 26, 2024
LOC1268615091Oct 2, 2023
LOC1268615351Oct 2, 2023
LOC1268616159Jan 26, 2024
LOC1268616371Jan 26, 2024
LOC1268616621Feb 6, 2023
LOC1268616642Aug 30, 2022
LOC1268617521Jul 15, 2022
LOC1268618344May 17, 2023
LOC1268618881Nov 14, 2023
LOC12686189613Oct 2, 2023
LOC12686189721Dec 26, 2023
LOC12686189817Oct 27, 2023
LOC1268619361Dec 26, 2023
LOC1268620941Nov 14, 2023
LOC1268621155Dec 26, 2023
LOC12686212410Jun 21, 2023
LOC12686226435Jan 26, 2024
LOC1268623611Feb 6, 2023
LOC1268624475Mar 16, 2023
LOC1268624561Mar 16, 2023
LOC1268624571Jul 15, 2022
LOC1268624791Jul 25, 2023
LOC1268624821Jul 15, 2022
LOC1268624941Jan 26, 2024
LOC1268625002Dec 26, 2023
LOC1268625061Oct 13, 2022
LOC1268625494Oct 2, 2023
LOC126862571217Jan 26, 2024
LOC1268625865Oct 27, 2023
LOC1268626641Apr 14, 2023
LOC1268626851Dec 14, 2022
LOC1268627072Jan 11, 2023
LOC1268628604Aug 30, 2022
LOC1268628641Dec 14, 2022
LOC1268628662Nov 14, 2023
LOC1268629241Apr 14, 2023
LOC1268630841Apr 29, 2020
LOC1268631371Sep 14, 2022
LOC1268631603Jan 26, 2024
LOC1268632073Aug 25, 2023
LOC1268632391Jan 11, 2023
LOC1268632561Mar 6, 2020
LOC1268632582Nov 14, 2023
LOC1268632621Jul 29, 2022
LOC1268632741Aug 6, 2020
LOC1278934503Nov 10, 2022
LOC1278985642Jan 26, 2024
LOC1287722545Mar 16, 2023
LOC1289666231Jan 26, 2024
LOC1293884291Aug 5, 2021
LOC1293888572Oct 2, 2023
LOC1293891441Mar 11, 2022
LOC1293898371May 17, 2023
LOC1293909035Oct 13, 2022
LOC1293910171Jul 29, 2022
LOC1293910643Sep 1, 2021
LOC1299290301Jul 15, 2022
LOC1299295422Feb 6, 2023
LOC1299297735Nov 14, 2023
LOC1299298371Oct 6, 2020
LOC12993044610Mar 16, 2023
LOC1299305616Mar 16, 2023
LOC1299306683Jan 26, 2024
LOC1299309891May 17, 2023
LOC1299309984Jun 21, 2023
LOC1299311091May 19, 2021
LOC1299312351Mar 6, 2020
LOC1299312991Jun 21, 2023
LOC1299315973Oct 13, 2022
LOC1299331551Jul 15, 2022
LOC1299333341Jul 29, 2022
LOC1299335353Jan 26, 2024
LOC12993370710Jun 21, 2023
LOC1299338432Apr 14, 2023
LOC1299340961Aug 25, 2023
LOC1299343332Sep 14, 2022
LOC1299350261Jul 7, 2021
LOC1299351724Jul 15, 2022
LOC1299351821Feb 9, 2022
LOC1299351835Jul 29, 2022
LOC1299351844Feb 6, 2023
LOC1299351852Jul 25, 2023
LOC1299354171May 12, 2022
LOC1299357307Jan 26, 2024
LOC1299360564Oct 27, 2023
LOC1299362442Jan 11, 2023
LOC1299364343Mar 16, 2023
LOC1299364362Dec 14, 2022
LOC1299366651Mar 6, 2020
LOC1299369241Jun 21, 2023
LOC1299369491Mar 16, 2023
LOC1299369791Jan 26, 2024
LOC1299375863Apr 19, 2022
LOC12993768613Jan 26, 2024
LOC1299377371Nov 14, 2023
LOC1299923043Jul 25, 2023
LOC1299923302Aug 25, 2023
LOC1299925854Mar 16, 2023
LOC12999278417Jan 26, 2024
LOC1299929241Apr 14, 2023
LOC1299937341Oct 2, 2023
LOC1299938851Oct 22, 2021
LOC1299940231Nov 10, 2022
LOC12999412616Oct 2, 2023
LOC1299944601Jan 25, 2018
LOC1299945694Sep 14, 2022
LOC1299947371Dec 14, 2022
LOC1299951241Jan 6, 2022
LOC1299962454Feb 6, 2023
LOC1299967271Nov 10, 2020
LOC1299969331Jul 15, 2022
LOC1299977172Jul 15, 2022
LOC1299979281Oct 13, 2022
LOC1299983432Oct 27, 2023
LOC1299987881Mar 16, 2023
LOC1299987891Sep 1, 2021
LOC1299987962Jan 11, 2023
LOC1299988332Oct 2, 2023
LOC1299992731May 17, 2023
LOC1299996602Dec 21, 2021
LOC1300003166Mar 6, 2020
LOC1300003371Mar 11, 2022
LOC1300006221Oct 2, 2023
LOC1300016032Jan 25, 2018
LOC1300016821Apr 19, 2022
LOC13000168313Dec 26, 2023
LOC1300018141Mar 11, 2022
LOC1300018621Nov 10, 2022
LOC1300020591Jul 25, 2023
LOC1300021335Jan 26, 2024
LOC1300022235Jun 21, 2023
LOC1300028994Apr 14, 2023
LOC1300030201Aug 25, 2023
LOC1300030982Sep 14, 2022
LOC1300031351Nov 14, 2023
LOC1300041093Mar 16, 2023
LOC1300042431Mar 16, 2023
LOC13000427355Jan 26, 2024
LOC1300044081Aug 25, 2023
LOC1300045062Aug 30, 2022
LOC1300045782Apr 14, 2023
LOC1300046141Apr 24, 2019
LOC1300050231Jul 25, 2023
LOC1300051931Dec 2, 2020
LOC1300052071Jun 21, 2023
LOC1300054432Mar 16, 2023
LOC1300054441Mar 11, 2022
LOC1300055471Dec 21, 2021
LOC1300055492Oct 2, 2023
LOC1300057401Jul 29, 2022
LOC1300062921Oct 2, 2023
LOC1300065721Aug 25, 2023
LOC1300067652Jan 26, 2024
LOC1300068954May 17, 2023
LOC1300070261Jan 26, 2024
LOC1300077001Dec 26, 2023
LOC1300081485Oct 27, 2023
LOC1300085201Nov 16, 2021
LOC1300089871Aug 25, 2023
LOC1300090401Jan 26, 2024
LOC1300091171Jul 15, 2022
LOC1300092401Aug 30, 2022
LOC1300092664Aug 5, 2021
LOC1300095732Aug 30, 2022
LOC1300095881Mar 16, 2023
LOC1300096621Jan 6, 2022
LOC1300097511Aug 25, 2023
LOC1300098101Oct 2, 2023
LOC1300099134Aug 30, 2022
LOC1300101271Nov 14, 2023
LOC1300555881Nov 10, 2020
LOC1300556021Feb 6, 2023
LOC1300562175Jan 11, 2023
LOC1300562262Feb 6, 2023
LOC1300563261Dec 14, 2022
LOC1300568001May 12, 2022
LOC1300569212Jun 21, 2023
LOC13005701912May 17, 2023
LOC1300570201Aug 18, 2011
LOC1300573521Mar 6, 2020
LOC1300574751Jul 29, 2022
LOC1300578911Apr 19, 2022
LOC1300581581Jan 26, 2024
LOC1300582031Jul 25, 2023
LOC1300583842Apr 14, 2023
LOC1300585432Jan 26, 2024
LOC1300586581Feb 6, 2023
LOC1300588784Jun 21, 2023
LOC1300589473Jan 26, 2024
LOC1300591562Mar 16, 2023
LOC1300593041Mar 11, 2022
LOC1300593942Mar 16, 2023
LOC1300597621Oct 2, 2023
LOC1300598183Nov 14, 2023
LOC1300598373Apr 14, 2023
LOC1300598922Nov 10, 2022
LOC1300600411Aug 25, 2023
LOC1300600441Aug 30, 2022
LOC1300601132Jan 6, 2022
LOC1300604181Jul 25, 2023
LOC1300608882Aug 25, 2023
LOC1300609034Aug 25, 2023
LOC1300609831Apr 19, 2022
LOC1300609941Nov 10, 2022
LOC1300619001May 12, 2022
LOC1300621971Mar 6, 2020
LOC1300623406Sep 14, 2022
LOC1300625861Mar 11, 2022
LOC1300627941Nov 10, 2022
LOC13006289920Dec 26, 2023
LOC1300629456Dec 26, 2023
LOC1300631935Jun 21, 2023
LOC1300636481Mar 6, 2020
LOC1300636501Dec 14, 2022
LOC1300637172Dec 26, 2023
LOC1300640201Aug 25, 2023
LOC1300642791Oct 2, 2023
LOC1300643571Nov 14, 2023
LOC1300644171Apr 24, 2019
LOC1300645952Apr 14, 2023
LOC1300648551Nov 14, 2023
LOC1300649721Aug 25, 2023
LOC1300653221Apr 19, 2022
LOC1300653455Oct 2, 2023
LOC1300654332Jul 25, 2023
LOC1300656781Aug 25, 2023
LOC1300656792Jan 26, 2024
LOC1300656804Jan 6, 2022
LOC1300659741May 17, 2023
LOC1300659801May 12, 2022
LOC1300661661Jun 21, 2023
LOC13006701611Jun 21, 2023
LOC1300676091Sep 14, 2022
LOC1300678624Dec 26, 2023
LOC1300678641Dec 26, 2023
LOC1300682021Dec 21, 2021
LOC1300687461Mar 11, 2022
LOC1300687471Nov 14, 2023
LOC1300688542Mar 6, 2020
LOC1320894541May 17, 2023
LOC1320900591Dec 14, 2022
LONP14Jan 26, 2024
LOX15Jan 26, 2024
LOXHD142Jan 26, 2024
LPIN21Jul 15, 2022
LPL51Jan 26, 2024
LRAT3Jun 21, 2023
LRBA2Jan 26, 2024
LRP227Oct 27, 2023
LRP42Nov 14, 2023
LRP4-AS11Jan 6, 2022
LRP518Jan 26, 2024
LRPPRC22Oct 2, 2023
LRRC37A21Jun 21, 2023
LRRC5644Oct 2, 2023
LRRK29Dec 26, 2023
LTBP21Jan 6, 2022
LTBP413Jun 21, 2023
LURAP1L-AS11Oct 2, 2023
LYRM41Jan 26, 2024
LYSMD11Jan 26, 2024
LYST24Jan 26, 2024
LZTR1224Jan 26, 2024
MACF13Nov 14, 2023
MACROD21Nov 14, 2023
MADD2Dec 26, 2023
MAF6Nov 14, 2023
MAFB2Dec 26, 2023
MAG1Jan 26, 2024
MAGEL29Oct 27, 2023
MAGT12Jul 25, 2023
MAK11Jul 25, 2023
MALT13Jul 29, 2022
MALT1-AS11Mar 11, 2022
MAN2B146Jan 26, 2024
MAN2B22Apr 27, 2021
MAN2C11Dec 26, 2023
MANBA24Jan 26, 2024
MAP1B5Dec 26, 2023
MAP2K148Jan 26, 2024
MAP2K2114Jan 26, 2024
MAP3K202Jun 21, 2023
MAP3K20-AS12Jun 21, 2023
MAP3K71May 17, 2023
MAPK11Oct 27, 2023
MAPK8IP35Oct 2, 2023
MAPRE21Apr 24, 2019
MAPT2Jan 26, 2024
MARK31Mar 11, 2022
MARS19Jan 26, 2024
MARS21Jul 29, 2022
MASP11Nov 10, 2022
MAST12Nov 14, 2023
MAST31Oct 2, 2023
MAT1A2Aug 25, 2023
MAT2A10Oct 2, 2023
MATN31Sep 14, 2022
MATR31Jul 25, 2023
MAX3Jul 25, 2023
MBD58Dec 26, 2023
MC2R2Feb 6, 2023
MC4R8Sep 24, 2019
MCCC120Jan 26, 2024
MCCC228Jan 26, 2024
MCEE3Jan 26, 2024
MCFD22May 17, 2023
MCM22Dec 26, 2023
MCM3AP2Oct 2, 2023
MCM41Oct 2, 2023
MCOLN122May 17, 2023
MCPH114Jan 26, 2024
MCPH1-AS14Nov 14, 2023
MDH21Nov 14, 2023
MEA13Jan 26, 2024
MECOM1Dec 26, 2023
MECP296Nov 14, 2023
MED1210Dec 26, 2023
MED12L5Nov 14, 2023
MED131Nov 16, 2021
MED13L9Nov 14, 2023
MED172Jan 26, 2024
MED236Oct 2, 2023
MEF2C1Jul 29, 2022
MEFV152Jan 26, 2024
MEGF103Jan 26, 2024
MEGF815Jul 25, 2023
MEIS21Jan 11, 2023
MEN176Jan 26, 2024
MESP29Jan 26, 2024
MET24Aug 25, 2023
METTL51Apr 29, 2020
MFAP512Jan 26, 2024
MFF1Jan 11, 2023
MFF-DT83Jan 26, 2024
MFN26Nov 14, 2023
MFSD812Oct 27, 2023
MGAT21Nov 14, 2023
MHRT26Nov 14, 2023
MIB11Aug 25, 2023
MICU11Sep 14, 2022
MICU21May 19, 2021
MID15Jan 26, 2024
MID24Jan 26, 2024
MILR16Dec 26, 2023
MIPEP1May 17, 2023
MIR36061Jan 25, 2018
MIR3936HG4Sep 14, 2022
MIR46731Aug 25, 2023
MIR46851Jan 26, 2024
MIR4713HG2Jun 21, 2023
MIR65051May 17, 2023
MIR7111Jul 25, 2023
MITD11Oct 13, 2022
MITF6Sep 14, 2022
MKKS10Jan 26, 2024
MKRN31Apr 19, 2022
MKS117Jan 26, 2024
MLC115Jan 26, 2024
MLH1368Jan 26, 2024
MLYCD1Apr 14, 2023
MMAA15Oct 27, 2023
MMAB17May 17, 2023
MMACHC54Jan 26, 2024
MMADHC9Jan 26, 2024
MME8Jan 26, 2024
MMP133Jul 29, 2022
MMUT71Dec 26, 2023
MN13May 17, 2023
MOCS17Dec 26, 2023
MOCS21Jan 26, 2024
MORC29Nov 14, 2023
MPDU13Jan 26, 2024
MPDU1-AS11Jan 26, 2024
MPDZ4Jan 26, 2024
MPI8Oct 2, 2023
MPL29Jan 26, 2024
MPV178Dec 26, 2023
MPZ4Jul 25, 2023
MPZL21Jul 29, 2022
MRAS21Dec 26, 2023
MRE1160Oct 2, 2023
MRPL442Oct 2, 2023
MRPS21Feb 6, 2023
MRPS221Jan 26, 2024
MRPS342Oct 27, 2023
MSH2495Jan 26, 2024
MSH6687Jan 26, 2024
MSN1Jul 29, 2022
MSTO12May 19, 2021
MSX21Oct 2, 2023
MTFMT1Jul 25, 2023
MTHFD110Jan 26, 2024
MTHFR10Jan 26, 2024
MTM19Nov 14, 2023
MTMR22Nov 14, 2023
MTO15Jan 26, 2024
MTOR8Jan 26, 2024
MTOR-AS11Nov 14, 2023
MTR1Dec 26, 2023
MTRFR2Jan 11, 2023
MTRR1Aug 25, 2023
MTSS22Jan 26, 2024
MTTP31Oct 2, 2023
MUS812Aug 25, 2023
MUSK4Jan 26, 2024
MUTYH190Jan 26, 2024
MVK6Jan 26, 2024
MVP-DT8Dec 26, 2023
MYBPC12Dec 26, 2023
MYBPC3148Jan 26, 2024
MYCN1Nov 14, 2023
MYCNOS1Nov 14, 2023
MYH11185Jan 26, 2024
MYH1414Jan 26, 2024
MYH27Jan 26, 2024
MYH38Dec 26, 2023
MYH6155Jan 26, 2024
MYH7159Jan 26, 2024
MYH81Jan 26, 2024
MYH917Jan 26, 2024
MYHAS8Jan 26, 2024
MYL225Nov 14, 2023
MYL318Dec 26, 2023
MYLK172Jan 26, 2024
MYLK-AS119Oct 2, 2023
MYLK235Jan 26, 2024
MYMK2Jan 26, 2024
MYO15A11Dec 26, 2023
MYO18B4Oct 27, 2023
MYO195Jun 21, 2023
MYO1C1Dec 26, 2023
MYO1E1Jan 6, 2022
MYO1F1Mar 6, 2020
MYO3A1Nov 14, 2023
MYO61Nov 14, 2023
MYO7A37Jan 26, 2024
MYO9A1Apr 19, 2022
MYOT13Jan 26, 2024
MYOZ27Oct 2, 2023
MYPN39Jan 26, 2024
MYRF1Apr 29, 2020
MYT1L5Nov 14, 2023
NAA381Jul 29, 2022
NACC12Nov 14, 2023
NADSYN12Jan 26, 2024
NAGA4Jan 26, 2024
NAGLU48Jan 26, 2024
NAGS2Jan 26, 2024
NALCN6Jan 26, 2024
NALCN-AS11Jan 26, 2024
NANS1Jan 26, 2024
NARS22Dec 26, 2023
NAXE2Oct 2, 2023
NBAS39Jan 26, 2024
NBEA5Oct 27, 2023
NBEAL210Jan 26, 2024
NBN195Jan 26, 2024
NCAPD22Mar 16, 2023
NCAPD32Jan 26, 2024
NCAPG24Dec 26, 2023
NCAPH23Jul 25, 2023
NCF13Apr 14, 2023
NCF214Oct 2, 2023
NCF411Jul 25, 2023
NCF4-AS15Jul 25, 2023
NCOR21Aug 6, 2020
NDE176Jan 26, 2024
NDRG12Dec 26, 2023
NDST11Dec 31, 2020
NDUFA101Aug 30, 2022
NDUFA122Dec 14, 2022
NDUFA92Jan 11, 2023
NDUFAF11Nov 14, 2023
NDUFAF29Nov 14, 2023
NDUFAF511Oct 2, 2023
NDUFAF61Jan 11, 2023
NDUFAF81Jun 17, 2021
NDUFB111Jan 26, 2024
NDUFB31Jul 15, 2022
NDUFB81Apr 19, 2022
NDUFB92Jul 25, 2023
NDUFS24Oct 27, 2023
NDUFS413Jan 26, 2024
NDUFS62Apr 19, 2022
NDUFS78Oct 27, 2023
NDUFS81Aug 25, 2023
NDUFV120Dec 26, 2023
NDUFV21Aug 30, 2022
NEB234Jan 26, 2024
NEBL39Jan 26, 2024
NECAP11Jan 26, 2024
NEDD4L2Oct 2, 2023
NEFH3Jan 11, 2023
NEK11Apr 14, 2023
NEK82Oct 27, 2023
NEU114Jan 26, 2024
NEUROD13Jan 26, 2024
NEXMIF7Dec 26, 2023
NEXN9Jan 26, 2024
NF1244Jan 26, 2024
NF210Feb 6, 2023
NFE2L22Dec 26, 2023
NFIB2Apr 14, 2023
NFIX3Oct 2, 2023
NFKB22Apr 14, 2023
NFU13Oct 27, 2023
NGLY112Jan 26, 2024
NHEJ14Mar 16, 2023
NHS1Jul 25, 2023
NICN11Nov 14, 2023
NIN3Dec 26, 2023
NIPA11Dec 14, 2022
NIPAL49Oct 27, 2023
NIPBL9Dec 26, 2023
NIPSNAP3B17Oct 2, 2023
NKAP1Jul 25, 2023
NKX2-11Mar 6, 2020
NKX2-511Oct 13, 2022
NKX2-64Jan 26, 2024
NLGN35Jan 26, 2024
NLGN4X3Oct 2, 2023
NLRC43Jan 26, 2024
NLRP11Oct 27, 2023
NLRP125Nov 14, 2023
NLRP33Aug 25, 2023
NME71Nov 20, 2015
NOD23Oct 27, 2023
NOG1Mar 6, 2020
NOL34Dec 26, 2023
NONO6Dec 26, 2023
NOS1AP19Oct 2, 2023
NOTCH1166Jan 26, 2024
NOTCH28Dec 26, 2023
NOTCH317Jan 26, 2024
NOVA21Feb 6, 2023
NPC198Jan 26, 2024
NPC210Jan 26, 2024
NPHP113Jan 26, 2024
NPHP317Feb 6, 2023
NPHP3-ACAD1117Aug 25, 2023
NPHP3-AS13Apr 19, 2022
NPHP42Jun 17, 2021
NPHS194Jan 26, 2024
NPHS235Jan 26, 2024
NPPA8Mar 16, 2023
NPPA-AS18Mar 16, 2023
NPPC1Jan 26, 2024
NPR25Dec 26, 2023
NPRL22Jan 26, 2024
NPRL34May 17, 2023
NR0B14Jul 15, 2022
NR2E31Aug 25, 2023
NR2F11Mar 6, 2020
NR2F1-AS11Mar 6, 2020
NR2F21May 17, 2023
NR4A21Oct 2, 2023
NRAS17Nov 14, 2023
NRIP11Nov 10, 2022
NRXN16Dec 26, 2023
NSD113Dec 26, 2023
NSD23Jan 26, 2024
NSDHL4Aug 25, 2023
NSUN24Oct 2, 2023
NSUN623Apr 14, 2023
NT5C22Apr 14, 2023
NT5DC14Jan 26, 2024
NTRK121Nov 14, 2023
NTRK23Dec 26, 2023
NUBPL4Dec 26, 2023
NUP1072Nov 14, 2023
NUP1882Dec 26, 2023
NUP2142May 17, 2023
NUP622Mar 6, 2020
NUS11Nov 10, 2022
NXN1Apr 14, 2023
OAT9Oct 2, 2023
OBSCN1Jan 26, 2024
OBSL137Jan 26, 2024
OCA230Jan 26, 2024
OCRL8Jan 26, 2024
ODAD21Oct 2, 2023
ODC11Oct 27, 2023
OFD16Nov 14, 2023
OGDHL1May 17, 2023
OMG1Oct 2, 2023
OPA118Jan 26, 2024
OPA1-AS11Jul 25, 2023
OPA32Oct 2, 2023
OPHN13Feb 6, 2023
OPTN1Dec 26, 2023
ORAI13Aug 25, 2023
OSGIN21Sep 1, 2021
OSMR2Oct 27, 2023
OSTM13Apr 14, 2023
OTC32Oct 27, 2023
OTOA2Nov 14, 2023
OTOF49Jan 26, 2024
OTOG2Apr 14, 2023
OTUD51Sep 1, 2021
OTUD6B2Mar 6, 2020
OXR11Apr 19, 2022
OXTR21Nov 14, 2023
P2RX21Oct 2, 2023
P2RY122Nov 10, 2022
P3H16Jan 26, 2024
PABPN11Dec 14, 2022
PACS15Dec 26, 2023
PACS22Oct 27, 2023
PAFAH1B11Nov 14, 2023
PAH229Jan 26, 2024
PAK32Oct 2, 2023
PAK61Jan 11, 2023
PALB2367Jan 26, 2024
PANK229Jan 26, 2024
PARK71Dec 26, 2023
PARS21Nov 16, 2021
PAX12Oct 2, 2023
PAX21Dec 14, 2022
PAX33Aug 25, 2023
PAX46Aug 25, 2023
PAX61Jan 26, 2024
PAX82Nov 14, 2023
PC4Dec 26, 2023
PCCA45Dec 26, 2023
PCCB47Jan 26, 2024
PCDH1572Jan 26, 2024
PCDH195Jan 26, 2024
PCLO10Jan 26, 2024
PCNT3Jan 26, 2024
PCSK51Apr 19, 2022
PCSK9116Oct 27, 2023
PDCD22Jul 15, 2022
PDE10A1Nov 14, 2023
PDE11A3Dec 26, 2023
PDE11A-AS11Feb 9, 2022
PDE3A4Dec 26, 2023
PDE3A-AS11Aug 30, 2022
PDE6A4Aug 25, 2023
PDE8B2Nov 14, 2023
PDGFB1Nov 10, 2022
PDGFRB1Jun 21, 2023
PDHA110Dec 26, 2023
PDHB4Nov 14, 2023
PDHX12Oct 27, 2023
PDK32Nov 14, 2023
PDLIM316Jan 26, 2024
PDP11Mar 11, 2022
PDSS23Aug 25, 2023
PDX122Oct 27, 2023
PDYN1Aug 25, 2023
PDYN-AS11Aug 25, 2023
PDZD71Mar 16, 2023
PDZD91Jun 21, 2023
PEPD1Sep 14, 2022
PET1001Oct 2, 2023
PEX152Dec 26, 2023
PEX1018Mar 16, 2023
PEX11B2Sep 14, 2022
PEX1217Nov 14, 2023
PEX134Jan 26, 2024
PEX143Oct 2, 2023
PEX162Jun 21, 2023
PEX191Nov 16, 2021
PEX212Jan 26, 2024
PEX268Jan 11, 2023
PEX34Dec 26, 2023
PEX57Jan 26, 2024
PEX638Jan 26, 2024
PEX721Oct 27, 2023
PFAS1Jul 25, 2023
PFKM6May 17, 2023
PFN12Apr 14, 2023
PGAM22Oct 27, 2023
PGAP31Jan 11, 2023
PGBD34Jul 25, 2023
PGGHG1Jul 25, 2023
PGK11May 17, 2023
PGM14Jan 26, 2024
PGM38Jan 26, 2024
PHACTR11Dec 14, 2022
PHEX17Dec 26, 2023
PHF21A2May 12, 2022
PHF325Jan 26, 2024
PHF84Oct 27, 2023
PHGDH13Jan 26, 2024
PHIP5Nov 14, 2023
PHKA110Jan 26, 2024
PHKA212Nov 14, 2023
PHKA2-AS13Nov 14, 2023
PHKB22Jan 26, 2024
PHKG26Jan 26, 2024
PHOX2B12Nov 14, 2023
PHOX2B-AS11Jan 25, 2018
PHYH2Oct 2, 2023
PI4KA4Dec 26, 2023
PIBF11Jan 26, 2024
PIDD18Jan 26, 2024
PIEZO12Aug 25, 2023
PIEZO27Jan 26, 2024
PIGA1Dec 26, 2023
PIGB2Jan 26, 2024
PIGG4Dec 26, 2023
PIGL1Oct 13, 2022
PIGN6Oct 27, 2023
PIGO3Dec 26, 2023
PIGQ1Apr 14, 2023
PIGT1Aug 25, 2023
PIGW3Jun 21, 2023
PIH1D21Jul 15, 2022
PIK3CA4Nov 14, 2023
PIK3CG1Nov 14, 2023
PIK3R13Jun 21, 2023
PIK3R21Dec 26, 2023
PIRC662Jun 21, 2023
PITX21Feb 9, 2022
PKD144Jan 26, 2024
PKD1-AS16Jun 21, 2023
PKD1L12Aug 30, 2022
PKD26Jun 21, 2023
PKD2L2-DT13Jan 26, 2024
PKHD1246Jan 26, 2024
PKLR5Dec 26, 2023
PKP2117Jan 26, 2024
PLA2G640Jan 26, 2024
PLA2G74Dec 26, 2023
PLAG11Feb 6, 2023
PLAU1Oct 13, 2022
PLCG22Nov 14, 2023
PLCH23Mar 16, 2023
PLD11Dec 31, 2020
PLEC4Dec 26, 2023
PLEKHG26Oct 27, 2023
PLEKHG511Jan 26, 2024
PLG9Jan 26, 2024
PLN1Mar 6, 2020
PLOD151Jan 26, 2024
PLOD211Jan 26, 2024
PLOD31Aug 25, 2023
PLP11Dec 26, 2023
PLUT7Sep 24, 2019
PLXNA31Jan 26, 2024
PMM277Oct 27, 2023
PMP223Aug 25, 2023
PMS2457Jan 26, 2024
PNKD4Nov 14, 2023
PNKP4Dec 26, 2023
PNP8Dec 26, 2023
PNPLA18Aug 25, 2023
PNPLA21Oct 27, 2023
PNPLA65Jan 26, 2024
PNPLA83Oct 2, 2023
PNPO9Aug 25, 2023
PNPT16Jan 26, 2024
POC1A1Jul 25, 2023
POGLUT11Dec 26, 2023
POGZ5Dec 26, 2023
POLA15Oct 27, 2023
POLD1103Dec 26, 2023
POLE154Jan 26, 2024
POLG69Jan 26, 2024
POLG26Dec 26, 2023
POLGARF69Jan 26, 2024
POLH12May 17, 2023
POLK2Nov 14, 2023
POLR1A1Jan 11, 2023
POLR1B1May 12, 2022
POLR1C19Oct 27, 2023
POLR2A2Sep 14, 2022
POLR2F4Nov 14, 2023
POLR3A6Jan 26, 2024
POLR3B3Apr 14, 2023
POLR3GL1Dec 26, 2023
POLRMT6Nov 14, 2023
POMGNT115Jan 26, 2024
POMK1Feb 9, 2022
POMP1Mar 11, 2022
POMT121Nov 14, 2023
POMT220Nov 14, 2023
PON224Jan 26, 2024
POP11Jan 26, 2024
POR15Aug 25, 2023
POT11Dec 14, 2022
POU1F15Dec 26, 2023
POU3F41Dec 26, 2023
PPA22Sep 14, 2022
PPARG1Dec 14, 2022
PPIB6Jan 26, 2024
PPM1D3Jun 21, 2023
PPOX1Nov 14, 2023
PPP1CB7Dec 26, 2023
PPP1R211Nov 14, 2023
PPP2CA2Jan 26, 2024
PPP2R1A4May 17, 2023
PPP2R3C1Oct 27, 2023
PPP2R5D4Jan 26, 2024
PPP3CA2Aug 25, 2023
PPT126Jan 26, 2024
PQBP12Oct 2, 2023
PRADX1Jan 6, 2022
PRCD1Mar 11, 2022
PRDM1644Jan 26, 2024
PRDM57Apr 14, 2023
PREPL1Oct 2, 2023
PRF143Jan 26, 2024
PRICKLE13Dec 26, 2023
PRKAG238Jan 26, 2024
PRKAR1A59Dec 26, 2023
PRKCG5Jan 26, 2024
PRKD12Nov 14, 2023
PRKDC18Dec 26, 2023
PRKG128Jan 26, 2024
PRKN5Jan 26, 2024
PRMT73Aug 25, 2023
PRNP4Oct 27, 2023
PROC5Dec 26, 2023
PRODH5Dec 26, 2023
PROK21Nov 14, 2023
PROKR210Nov 14, 2023
PROP17Oct 2, 2023
PRPH2Nov 14, 2023
PRPH21Dec 26, 2023
PRR121Oct 13, 2022
PRRT28Dec 26, 2023
PRSS171Dec 26, 2023
PRSS128Dec 26, 2023
PSAP10Jan 26, 2024
PSAT12Oct 2, 2023
PSEN112Jan 26, 2024
PSEN24Jan 26, 2024
PSMB81Oct 13, 2022
PSMB8-AS11Jul 25, 2023
PSMD122Apr 14, 2023
PTCD32May 12, 2022
PTCH148Jan 26, 2024
PTCH24Jan 26, 2024
PTCHD12Mar 11, 2022
PTCHD1-AS5Oct 27, 2023
PTEN128Jan 26, 2024
PTHLH1Aug 5, 2021
PTPN11141Jan 26, 2024
PTPN235Dec 26, 2023
PTPRC5Jun 21, 2023
PTPRQ2Jul 25, 2023
PTPRT1Nov 14, 2023
PTS15Jan 26, 2024
PUF602Nov 14, 2023
PUM15Dec 26, 2023
PURA2Dec 26, 2023
PUS16Oct 2, 2023
PUS35Dec 26, 2023
PUS71Sep 14, 2022
PYCR113Dec 26, 2023
PYCR22Dec 26, 2023
PYGL6Jan 26, 2024
PYGM38Jan 26, 2024
QARS11Jan 26, 2024
QDPR8Jul 25, 2023
QRICH12Feb 6, 2023
QRSL11Oct 27, 2023
RAB235Jan 26, 2024
RAB27A2Sep 14, 2022
RAB33A3Sep 14, 2022
RAB39B1Jun 21, 2023
RAB3GAP12Oct 27, 2023
RAB3GAP21Nov 10, 2022
RAB7A1Dec 26, 2023
RAB9B1Dec 26, 2023
RAC12Jan 26, 2024
RAD211Nov 10, 2020
RAD50107Dec 26, 2023
RAD51C117Jan 26, 2024
RAD51D107Dec 26, 2023
RAD51L3-RFFL105Dec 26, 2023
RAF192Dec 26, 2023
RAG139Dec 26, 2023
RAG217Oct 2, 2023
RAI16Dec 26, 2023
RALA1Nov 14, 2023
RANBP24Aug 25, 2023
RANGRF1May 17, 2023
RAPSN11Oct 27, 2023
RARS11Oct 2, 2023
RARS226Jan 26, 2024
RASA291Jan 26, 2024
RASGRP11May 12, 2022
RASGRP24Jan 26, 2024
RB127Dec 26, 2023
RBBP81Oct 27, 2023
RBCK11Oct 2, 2023
RBM103Oct 27, 2023
RBM2066Jan 26, 2024
RBM281Nov 14, 2023
RBM8A3Jul 25, 2023
RBMX2Nov 14, 2023
RBPJ1Dec 26, 2023
RBX11Nov 14, 2023
RD31Jan 6, 2022
RDH1218Jan 26, 2024
RDH51Oct 27, 2023
RECQL49Nov 14, 2023
REEP21May 17, 2023
RELN19Nov 14, 2023
RERE10Jan 26, 2024
REST1Dec 14, 2022
RET63Nov 14, 2023
RETREG11Oct 2, 2023
RETREG1-AS11Oct 2, 2023
RFT11Jul 25, 2023
RFX510Jan 26, 2024
RFX72Jan 26, 2024
RFXANK3Nov 10, 2022
RFXAP3Aug 30, 2022
RHAG3Oct 27, 2023
RHOBTB22Dec 26, 2023
RIF162Jan 26, 2024
RIGI1May 12, 2022
RIMS11Nov 10, 2020
RIN22Jun 21, 2023
RIT133Aug 25, 2023
RLBP112Oct 2, 2023
RLIG12Dec 26, 2023
RLIM1Jan 26, 2024
RMND11Jul 29, 2022
RMRP89Jan 26, 2024
RNASE41Sep 14, 2022
RNASEH11Oct 27, 2023
RNASEH2A5Apr 14, 2023
RNASEH2B10Jan 26, 2024
RNASEH2B-AS11Oct 2, 2023
RNASEH2C3Oct 2, 2023
RNASET21May 17, 2023
RNF1702Apr 14, 2023
RNF21Nov 14, 2023
RNF2137Jan 26, 2024
RNF213-AS11Apr 14, 2023
RNU4ATAC3Aug 25, 2023
ROBO11Aug 25, 2023
ROGDI1Dec 14, 2022
ROR22Oct 27, 2023
RORA4Apr 14, 2023
RORA-AS13Apr 14, 2023
RP1L11May 17, 2023
RP27Feb 6, 2023
RPE6527Jan 26, 2024
RPGR8Aug 25, 2023
RPGRIP124Jan 26, 2024
RPGRIP1L21Nov 14, 2023
RPH3A1Mar 6, 2020
RPIA4Dec 26, 2023
RPL101Jul 25, 2023
RPL271Dec 14, 2022
RPL36A-HNRNPH2198Jan 26, 2024
RPL3L2Jul 25, 2023
RPS192Oct 2, 2023
RPS231Mar 16, 2023
RPS6KA33Aug 30, 2022
RRAS49Nov 14, 2023
RRM2B3Oct 27, 2023
RS16Jan 26, 2024
RTEL125Jan 26, 2024
RTEL1-TNFRSF6B25Jan 26, 2024
RTN23Dec 26, 2023
RTN4IP13Oct 2, 2023
RTTN4Jan 26, 2024
RUNX22Jun 21, 2023
RXYLT11Jan 26, 2024
RYR180Jan 26, 2024
RYR2331Jan 26, 2024
RYR36Dec 26, 2023
SACS67Jan 26, 2024
SAG1Oct 2, 2023
SALL43Dec 26, 2023
SAMD94Nov 14, 2023
SAMD9L5Jan 26, 2024
SAMHD113Oct 27, 2023
SARM12Dec 14, 2022
SASH11Oct 27, 2023
SASS61Jun 21, 2023
SATB22Nov 14, 2023
SBDS1May 17, 2023
SBF17Nov 14, 2023
SBF21Dec 26, 2023
SCAMP42Dec 31, 2020
SCARB21Nov 14, 2023
SCN10A31Jan 26, 2024
SCN11A8Jan 26, 2024
SCN1A65Dec 26, 2023
SCN1A-AS113Jan 26, 2024
SCN1B23Jan 26, 2024
SCN2A12Jan 26, 2024
SCN2B4Jan 26, 2024
SCN3B4Jan 26, 2024
SCN4A13Jan 26, 2024
SCN4B12Dec 26, 2023
SCN5A204Jan 26, 2024
SCN8A9Jan 26, 2024
SCN9A15Jan 26, 2024
SCNN1B7Nov 14, 2023
SCNN1G2Dec 26, 2023
SCO11Jul 25, 2023
SCO28Jan 26, 2024
SCUBE31Nov 14, 2023
SDCCAG813May 17, 2023
SDHA12Jan 26, 2024
SDHAF12Oct 2, 2023
SDHAF21Nov 10, 2020
SDHB37Jan 26, 2024
SDHC9Nov 14, 2023
SDHD11Aug 30, 2022
SDR9C75Jan 26, 2024
SEC23B5Dec 26, 2023
SEC24D2Oct 13, 2022
SEC31A2Nov 14, 2023
SEC631Aug 5, 2021
SECISBP21Oct 2, 2023
SELENON20Jan 26, 2024
SEMA3E1Feb 6, 2023
SEPSECS6Jan 26, 2024
SEPT5-GP1BB3Dec 26, 2023
SEPTIN92Dec 26, 2023
SEPTIN9-DT1Nov 10, 2022
SERAC11Jul 25, 2023
SERPINA18Aug 25, 2023
SERPINC12Oct 22, 2021
SERPINF112Oct 2, 2023
SERPINH14Dec 26, 2023
SERPINI11Oct 27, 2023
SET1Nov 14, 2023
SETBP111Jan 26, 2024
SETD1A9Jan 26, 2024
SETD1B7Jan 26, 2024
SETD27Dec 26, 2023
SETD54Nov 14, 2023
SETX16Jan 26, 2024
SF3B11Aug 5, 2021
SF3B41Jun 21, 2023
SFTA31Mar 6, 2020
SGCA19Dec 26, 2023
SGCB8Dec 26, 2023
SGCD25Jan 26, 2024
SGCE4Dec 26, 2023
SGCG14Jan 26, 2024
SGSH45Jan 26, 2024
SH2D1A3Apr 24, 2019
SH3PXD2B3Jul 25, 2023
SH3TC27Oct 27, 2023
SHANK24Oct 2, 2023
SHANK33Dec 26, 2023
SHH1Feb 6, 2023
SHOC243Jan 26, 2024
SHOX30Jan 26, 2024
SHROOM43Oct 27, 2023
SI6Dec 26, 2023
SIAE1Mar 16, 2023
SIK11Apr 14, 2023
SIL13Dec 26, 2023
SIM11Dec 2, 2020
SIM1-AS11Dec 2, 2020
SIN3A5Nov 14, 2023
SIX12Nov 10, 2022
SIX31Nov 14, 2023
SKI32Oct 2, 2023
SKIC214Apr 14, 2023
SKIC321Jan 26, 2024
SLC12A111Apr 14, 2023
SLC12A21May 17, 2023
SLC12A334Jan 26, 2024
SLC12A55Jan 26, 2024
SLC12A5-AS11May 12, 2022
SLC12A619Jan 26, 2024
SLC13A51Aug 25, 2023
SLC16A14Jan 26, 2024
SLC16A24Jul 29, 2022
SLC17A525Jan 26, 2024
SLC17A83Oct 2, 2023
SLC19A16Jan 26, 2024
SLC19A33Jun 21, 2023
SLC1A23Nov 14, 2023
SLC1A31Jan 11, 2023
SLC1A42Oct 2, 2023
SLC20A24Jan 26, 2024
SLC22A41Jan 11, 2023
SLC22A581Jan 26, 2024
SLC25A12Mar 6, 2020
SLC25A1322Dec 26, 2023
SLC25A156Oct 27, 2023
SLC25A2023Oct 27, 2023
SLC25A221Jun 21, 2023
SLC25A241Jan 26, 2024
SLC25A263Jan 26, 2024
SLC25A321Jan 26, 2024
SLC25A351May 17, 2023
SLC25A45Nov 14, 2023
SLC26A119Aug 25, 2023
SLC26A112May 12, 2022
SLC26A230Oct 2, 2023
SLC26A34Dec 26, 2023
SLC26A484Jan 26, 2024
SLC26A4-AS16Apr 14, 2023
SLC26A5-AS14Aug 25, 2023
SLC27A47Nov 14, 2023
SLC2A111Jan 26, 2024
SLC2A1052Jan 26, 2024
SLC2A22Oct 2, 2023
SLC30A102Jun 21, 2023
SLC33A15Jun 21, 2023
SLC34A311Apr 14, 2023
SLC35A21Feb 6, 2023
SLC35A34Oct 2, 2023
SLC35C11Dec 26, 2023
SLC35D2-HSD17B31Aug 25, 2023
SLC36A111Dec 26, 2023
SLC37A440Dec 26, 2023
SLC39A131May 12, 2022
SLC39A142Dec 26, 2023
SLC39A43Jan 26, 2024
SLC39A51Oct 6, 2020
SLC39A81Apr 14, 2023
SLC3A14Dec 26, 2023
SLC40A11Apr 19, 2022
SLC44A41Oct 2, 2023
SLC45A23Oct 27, 2023
SLC46A14Jan 26, 2024
SLC4A11Dec 26, 2023
SLC4A1124Jan 26, 2024
SLC52A22Jul 25, 2023
SLC52A32Oct 2, 2023
SLC5A52Oct 2, 2023
SLC5A61Jan 11, 2023
SLC5A72Nov 14, 2023
SLC6A15Dec 26, 2023
SLC6A171Dec 26, 2023
SLC6A196Dec 26, 2023
SLC6A815Dec 26, 2023
SLC6A92Oct 2, 2023
SLC7A141Nov 10, 2022
SLC7A14-AS11Nov 10, 2022
SLC7A6OS1Oct 27, 2023
SLC7A715Jan 26, 2024
SLC7A91May 17, 2023
SLC9A11Jan 6, 2022
SLC9A62Nov 14, 2023
SLC9A73Nov 10, 2022
SLC9A92Nov 14, 2023
SLCO1B11Jan 11, 2023
SLCO1B31Jan 11, 2023
SLCO1B3-SLCO1B71Jan 11, 2023
SLFN141Feb 9, 2022
SLITRK12Dec 26, 2023
SLMAP6Aug 25, 2023
SLX48Jan 26, 2024
SMAD214Oct 2, 2023
SMAD328Jan 26, 2024
SMAD476Dec 26, 2023
SMAD623Jan 26, 2024
SMARCA11Nov 10, 2022
SMARCA27Nov 14, 2023
SMARCA42Nov 14, 2023
SMARCB110May 17, 2023
SMARCC24Dec 26, 2023
SMARCE12Aug 25, 2023
SMC1A2May 17, 2023
SMC34Nov 14, 2023
SMCHD13Dec 26, 2023
SMG82Nov 14, 2023
SMG91Jan 26, 2024
SMN143Nov 14, 2023
SMN21Apr 29, 2020
SMPD196Jan 26, 2024
SMPX1May 12, 2022
SNAPC57Jan 11, 2023
SNCB1Nov 14, 2023
SNHG142Jan 26, 2024
SNHG315Jul 25, 2023
SNIP11Apr 14, 2023
SNORD1183Jan 26, 2024
SNTA130Jan 26, 2024
SNX145Oct 27, 2023
SNX224Jan 26, 2024
SOCS12Jan 11, 2023
SOD12Dec 26, 2023
SON8Jan 26, 2024
SORD3Nov 14, 2023
SOS1180Jan 26, 2024
SOS2136Jan 26, 2024
SOX104Nov 14, 2023
SOX113Dec 26, 2023
SOX33Dec 26, 2023
SOX43Dec 26, 2023
SOX52Nov 14, 2023
SOX64Jan 26, 2024
SP1105Mar 16, 2023
SP1403Mar 16, 2023
SPAG81Dec 14, 2022
SPARC1Mar 11, 2022
SPAST13Dec 26, 2023
SPATA2237Oct 27, 2023
SPATA719Jan 26, 2024
SPECC1L2Oct 2, 2023
SPECC1L-ADORA2A2Oct 2, 2023
SPEG2Nov 14, 2023
SPEN1Nov 14, 2023
SPG1149Jan 26, 2024
SPG736Jan 26, 2024
SPINK136Nov 14, 2023
SPINK51Jan 26, 2024
SPOP1Apr 19, 2022
SPR1Mar 6, 2020
SPRED158Jan 26, 2024
SPTA11Apr 19, 2022
SPTAN15Dec 26, 2023
SPTBN17Dec 26, 2023
SPTBN1-AS21Nov 14, 2023
SPTBN215Dec 26, 2023
SPTBN45Oct 2, 2023
SPTLC13Jan 26, 2024
SPTLC21Jan 26, 2024
SQSTM12Oct 27, 2023
SRCAP16Dec 26, 2023
SRD5A27Oct 27, 2023
SRFBP115Jan 26, 2024
SRGAP11Feb 26, 2021
SRP721Jun 21, 2023
SRPX22Jul 25, 2023
SRRM22Jan 26, 2024
SSR42Jan 26, 2024
SSUH24Dec 26, 2023
ST3GAL51Aug 25, 2023
STAC31Sep 14, 2022
STAG15Dec 26, 2023
STAG21Dec 26, 2023
STAMBP2Nov 14, 2023
STAR9Oct 2, 2023
STAT11May 12, 2022
STAT347Nov 14, 2023
STAT5B4Jan 26, 2024
STEEP11Jul 29, 2022
STIL1May 12, 2022
STIM15Dec 26, 2023
STK11160Jan 26, 2024
STK42Feb 6, 2023
STON1-GTF2A1L4Dec 26, 2023
STRA61Dec 14, 2022
STRC5Nov 14, 2023
STUB12Nov 14, 2023
STX115Dec 26, 2023
STXBP13Jul 25, 2023
STXBP226Jan 26, 2024
STYXL21Mar 6, 2020
SUCLA22Aug 25, 2023
SUCLG12Nov 14, 2023
SUFU10Jan 26, 2024
SUGCT3Nov 14, 2023
SUMF120Dec 26, 2023
SUOX14Jan 26, 2024
SURF153Jan 26, 2024
SUZ121Sep 14, 2022
SVIL1Dec 14, 2022
SYCE24Aug 30, 2022
SYK1Oct 27, 2023
SYN14Dec 26, 2023
SYNE139Jan 26, 2024
SYNE211Dec 26, 2023
SYNE46Apr 14, 2023
SYNGAP112Dec 26, 2023
SYNGAP1-AS111Dec 26, 2023
SYNJ14Feb 6, 2023
SYP3Nov 14, 2023
SYP-AS11Jun 21, 2023
SYT24Oct 2, 2023
SZT217Dec 26, 2023
SZT2-AS12Nov 14, 2023
TAB24Oct 27, 2023
TAF16Nov 14, 2023
TAF22Jul 29, 2022
TAF42Jan 26, 2024
TAF62Dec 21, 2021
TAFAZZIN9Apr 14, 2023
TANC22Oct 2, 2023
TANGO22Jul 29, 2022
TAOK11Mar 6, 2020
TAOK21Dec 14, 2022
TAP12Jul 25, 2023
TAP21Apr 14, 2023
TARDBP1Nov 10, 2022
TARID7Aug 25, 2023
TASP11Jan 11, 2023
TAT4Aug 25, 2023
TAT-AS14Aug 25, 2023
TATDN11Apr 19, 2022
TBC1D243Dec 26, 2023
TBCD7Aug 25, 2023
TBCE4Jan 26, 2024
TBCEL-TECTA3Dec 26, 2023
TBCK4Apr 14, 2023
TBK12Dec 26, 2023
TBL1XR13Jan 26, 2024
TBL1XR1-AS11Oct 27, 2023
TBR11Jul 7, 2021
TBX111Dec 26, 2023
TBX191May 12, 2022
TBX22Nov 14, 2023
TBX205May 17, 2023
TBX221Jun 17, 2021
TBX31Apr 29, 2020
TBX510Jan 26, 2024
TBXA2R4Jan 26, 2024
TBXAS18Dec 26, 2023
TCAP16Dec 26, 2023
TCEAL12Jan 26, 2024
TCF122Jul 15, 2022
TCF2015Nov 14, 2023
TCF31Jul 25, 2023
TCF44Jan 26, 2024
TCHH1May 17, 2023
TCIRG111Jan 26, 2024
TCOF13Nov 14, 2023
TCTN18Oct 2, 2023
TCTN211Jan 26, 2024
TCTN35Jan 26, 2024
TECPR211Oct 2, 2023
TECR1Jan 26, 2024
TECRL2Jan 26, 2024
TECTA3Dec 26, 2023
TEK1Oct 13, 2022
TELO22Jan 26, 2024
TENM43Dec 26, 2023
TENT5A1Nov 14, 2023
TERT2Dec 26, 2023
TET32Oct 2, 2023
TEX121Jan 11, 2023
TF3Jan 26, 2024
TFAP2A2Dec 26, 2023
TFAP2A-AS21Dec 26, 2023
TFAP2B2Oct 2, 2023
TFG1Dec 26, 2023
TFR23Oct 2, 2023
TG10Jan 26, 2024
TGDS2Jan 11, 2023
TGFB230Jan 26, 2024
TGFB321Jan 26, 2024
TGFBR145Dec 26, 2023
TGFBR255Jan 26, 2024
TGM129Nov 14, 2023
TGM68Jan 26, 2024
TH24Oct 2, 2023
TH2-LCR9Oct 13, 2022
TH2LCRR17Dec 26, 2023
THBD2Jan 26, 2024
THOC22Jan 11, 2023
THPO1Jan 26, 2024
THRB25Jan 26, 2024
THSD11Dec 14, 2022
THUMPD11Dec 26, 2023
TIGD11Feb 9, 2022
TIMMDC15Apr 14, 2023
TINF21Jul 25, 2023
TK214Jan 26, 2024
TLDC21Jan 11, 2023
TLK22Jul 25, 2023
TLL11Dec 31, 2020
TM4SF202Oct 2, 2023
TMC12Jul 25, 2023
TMCO11Nov 14, 2023
TMEM1073Jan 26, 2024
TMEM126B2Jan 11, 2023
TMEM1277Nov 14, 2023
TMEM1383Apr 14, 2023
TMEM2168Jan 26, 2024
TMEM23113Jan 26, 2024
TMEM2379Jun 21, 2023
TMEM2401Sep 14, 2022
TMEM38B11Oct 27, 2023
TMEM4357Dec 26, 2023
TMEM50B1Aug 18, 2011
TMEM541Jan 26, 2024
TMEM63A2Dec 26, 2023
TMEM6732Jan 26, 2024
TMEM704Apr 14, 2023
TMLHE3Dec 26, 2023
TMPO34Jan 26, 2024
TMPO-AS16May 17, 2023
TMPPE3Mar 16, 2023
TMPRSS310Jan 26, 2024
TMTC31Sep 14, 2022
TMX21Oct 27, 2023
TMX2-CTNND12Oct 27, 2023
TNC7Dec 26, 2023
TNFAIP8L21Jan 26, 2024
TNFAIP8L2-SCNM11Jan 26, 2024
TNFRSF13B18Jun 21, 2023
TNFRSF1A2Jul 25, 2023
TNFSF113Jul 15, 2022
TNIK1Mar 16, 2023
TNNC112Jan 26, 2024
TNNI328Dec 26, 2023
TNNT11Aug 18, 2011
TNNT234Oct 2, 2023
TNNT31Oct 2, 2023
TNPO21May 17, 2023
TNPO35Jan 26, 2024
TNR1Apr 14, 2023
TNRC6B4Jan 26, 2024
TNXB15Jan 26, 2024
TOE18Dec 26, 2023
TOP2B4Oct 2, 2023
TOPORS1Oct 6, 2020
TOR1AIP12Aug 30, 2022
TP53136Jan 26, 2024
TP632Dec 26, 2023
TPM119Jan 26, 2024
TPM22Jul 25, 2023
TPO17Nov 14, 2023
TPP143Dec 26, 2023
TPRKB1Aug 25, 2023
TPRN1Jul 15, 2022
TRAF73Nov 14, 2023
TRAK11Oct 2, 2023
TRAPPC1110Jan 26, 2024
TRAPPC122Sep 14, 2022
TRAPPC12-AS11Sep 14, 2022
TRAPPC2L1Oct 2, 2023
TRAPPC92Nov 10, 2022
TRB71Dec 26, 2023
TRDN24Jan 26, 2024
TREM22Jul 25, 2023
TREX111Oct 27, 2023
TRIM141Jan 26, 2024
TRIM327May 17, 2023
TRIM59-IFT801Dec 31, 2020
TRIM6321Jan 26, 2024
TRIO18Jan 26, 2024
TRIOBP6Dec 26, 2023
TRIP111Nov 14, 2023
TRIP128Nov 14, 2023
TRIP42Oct 2, 2023
TRMT12Feb 6, 2023
TRMT10C1Oct 2, 2023
TRMT52Jan 11, 2023
TRMU16Jan 26, 2024
TRNT14Oct 2, 2023
TROAP-AS11Nov 14, 2023
TRPC31Aug 30, 2022
TRPM11Nov 10, 2022
TRPM32Dec 26, 2023
TRPM421Jan 26, 2024
TRPM75Aug 25, 2023
TRPS12Dec 14, 2022
TRPV43Dec 26, 2023
TRRAP7Dec 26, 2023
TSC146Jan 26, 2024
TSC292Jan 26, 2024
TSEN212Dec 26, 2023
TSEN342Feb 6, 2023
TSEN5413Jan 26, 2024
TSFM3Mar 16, 2023
TSHR13Jan 26, 2024
TSPAN112Dec 26, 2023
TSPAN3122Nov 14, 2023
TSPAN71Nov 14, 2023
TSPEAR2Dec 14, 2022
TTBK23Dec 26, 2023
TTC191Oct 2, 2023
TTC36-AS11May 12, 2022
TTC7A15May 17, 2023
TTC85Jan 26, 2024
TTN1842Jan 26, 2024
TTN-AS11037Jan 26, 2024
TTPA19Jan 26, 2024
TTR45Oct 2, 2023
TUBA1A3Nov 14, 2023
TUBA4A1Jul 25, 2023
TUBA81Dec 26, 2023
TUBB13Oct 2, 2023
TUBB35Nov 14, 2023
TUBB4A4Oct 27, 2023
TUBB62Oct 27, 2023
TUBGCP23Nov 14, 2023
TUFM1Nov 14, 2023
TULP19Jan 26, 2024
TUSC32Dec 26, 2023
TWIST13Dec 26, 2023
TWNK12Jan 26, 2024
TXN22Oct 27, 2023
TXNL4A1Nov 10, 2022
TYMP10Jan 26, 2024
TYR17Jan 26, 2024
TYROBP1Oct 13, 2022
TYRP13Oct 2, 2023
UBA51Aug 25, 2023
UBE3A2Jan 26, 2024
UBE3B1Nov 14, 2023
UBR12Sep 14, 2022
UBTF2Nov 14, 2023
UCHL11Nov 14, 2023
UCP22Jan 26, 2024
UGT1A5Oct 27, 2023
UGT1A15Oct 27, 2023
UGT1A105Oct 27, 2023
UGT1A35Oct 27, 2023
UGT1A45Oct 27, 2023
UGT1A55Oct 27, 2023
UGT1A65Oct 27, 2023
UGT1A75Oct 27, 2023
UGT1A85Oct 27, 2023
UGT1A95Oct 27, 2023
UMPS1May 19, 2021
UNC13D32Jan 26, 2024
UNC807Dec 26, 2023
UNG4Sep 14, 2022
UPB13Oct 27, 2023
UPF3B1May 12, 2022
UQCRC21Jun 21, 2023
UQCRFS11Dec 26, 2023
UROC13Nov 14, 2023
UROD1Jan 11, 2023
UROS1Jul 25, 2023
USH1C9Jan 26, 2024
USH1G9Feb 6, 2023
USH2A237Jan 26, 2024
USH2A-AS116Nov 14, 2023
USH2A-AS213Jan 26, 2024
USP182Jan 26, 2024
USP72Aug 25, 2023
USP9X6Nov 14, 2023
VAC141May 17, 2023
VARS13Nov 14, 2023
VARS28Jan 26, 2024
VCAN2May 17, 2023
VCAN-AS11May 17, 2023
VCL45Jan 26, 2024
VCP2Mar 16, 2023
VDR3Jan 26, 2024
VHL98Oct 27, 2023
VIPAS394Jan 26, 2024
VLDLR4Mar 16, 2023
VMA212Jan 26, 2024
VPS13A5Nov 14, 2023
VPS13B76Jan 26, 2024
VPS13C8Jan 26, 2024
VPS162Nov 14, 2023
VPS33B4Jan 26, 2024
VPS37A2Dec 26, 2023
VPS451Jan 26, 2024
VPS4A1Nov 14, 2023
VPS501Jun 21, 2023
VPS5316Aug 25, 2023
VRK15Jan 26, 2024
VRK26Jan 26, 2024
VSX21Oct 2, 2023
VWA11Jan 11, 2023
VWA3B3Nov 14, 2023
VWF124Jan 26, 2024
WAC6Nov 14, 2023
WARS23Oct 27, 2023
WARS2-AS11Jun 21, 2023
WAS33Dec 26, 2023
WASF13Jul 25, 2023
WASHC44Jan 11, 2023
WASHC54Nov 14, 2023
WASHC5-AS11Nov 14, 2023
WDFY35May 17, 2023
WDPCP1Apr 29, 2020
WDR11Apr 14, 2023
WDR112Nov 14, 2023
WDR191Dec 21, 2021
WDR266Dec 26, 2023
WDR351Dec 14, 2022
WDR41Mar 11, 2022
WDR451Mar 6, 2020
WDR625Nov 14, 2023
WDR731Jul 29, 2022
WDR812Jul 25, 2023
WFS111Nov 14, 2023
WHRN8Jan 26, 2024
WNK15Jan 26, 2024
WNK31Dec 26, 2023
WNK43Jan 26, 2024
WNT14Oct 2, 2023
WNT10A5Nov 14, 2023
WNT5A2Apr 14, 2023
WNT7A1Dec 26, 2023
WRN16Jan 26, 2024
WT113Dec 26, 2023
WWOX4Jul 25, 2023
XDH2Jan 26, 2024
XIAP1Feb 6, 2023
XPA18Oct 2, 2023
XPC37Oct 2, 2023
XPR13Dec 26, 2023
XRCC41Dec 14, 2022
YAP11Nov 14, 2023
YARS21Nov 14, 2023
YTHDF31Jun 21, 2023
YWHAG1Jul 25, 2023
YY11Oct 27, 2023
ZAP7013Jan 26, 2024
ZBTB112Jun 21, 2023
ZBTB11-AS11Jun 21, 2023
ZBTB201Nov 14, 2023
ZBTB247Apr 14, 2023
ZBTB253Jan 11, 2023
ZBTB7A1Jan 26, 2024
ZC3H141Nov 14, 2023
ZC4H22Nov 14, 2023
ZDHHC2422Jan 26, 2024
ZDHHC91Mar 6, 2020
ZEB25Nov 14, 2023
ZFPM11Oct 6, 2020
ZFPM212Nov 14, 2023
ZFPM2-AS111Nov 14, 2023
ZFYVE2613Jan 26, 2024
ZFYVE273Nov 14, 2023
ZGRF11Oct 27, 2023
ZIC13Oct 27, 2023
ZIC21Apr 14, 2023
ZMIZ14May 17, 2023
ZMYM24Nov 14, 2023
ZMYND112Oct 2, 2023
ZNF1424May 17, 2023
ZNF1481Mar 16, 2023
ZNF27613Jan 26, 2024
ZNF29211Dec 26, 2023
ZNF4073Dec 26, 2023
ZNF4231Jan 26, 2024
ZNF4627Jan 26, 2024
ZNF46950Jan 26, 2024
ZNF6271Dec 14, 2022
ZNF6991Apr 14, 2023
ZNF7114Aug 25, 2023
ZNHIT32Oct 27, 2023
ZSWIM62Oct 27, 2023

Condition

NameSubmissionsLast Updated
2-aminoadipic 2-oxoadipic aciduria5Nov 14, 2023
3-M syndrome6Nov 14, 2023
3-Methylglutaconic aciduria type 23Aug 30, 2022
3-Methylglutaconic aciduria type 31Nov 10, 2022
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3Oct 27, 2023
3-methylglutaconic aciduria type 11Jul 25, 2023
3-methylglutaconic aciduria, type VIIB1Nov 14, 2023
3M syndrome 29May 17, 2023
3M syndrome 35May 17, 2023
3MC syndrome 11Nov 10, 2022
3MC syndrome 21Nov 14, 2023
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency19Jan 26, 2024
8q24.3 microdeletion syndrome1Nov 16, 2021
AARS2-Related Disorders3Oct 2, 2023
ACAN-Related Disorders1Feb 6, 2023
ACE-Related Disorders1Nov 10, 2022
ACTG1-Related Disorders1Feb 6, 2023
ACVRL1-Related Disorders1Jun 21, 2023
ADGRV1-Related Disorders2Aug 25, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Oct 27, 2023
AGK-Related Disorders1Jan 26, 2024
ALDH18A1-Related Disorders1May 17, 2023
ALG1-congenital disorder of glycosylation9Nov 14, 2023
ALG12-congenital disorder of glycosylation2Oct 13, 2022
ALG6-congenital disorder of glycosylation 1C4Oct 2, 2023
ATP1A3-Related Disorders1Nov 10, 2022
ATP1A3-associated neurological disorder1Feb 6, 2023
Abetalipoproteinaemia13Jun 21, 2023
Acetazolamide-responsive myotonia2Oct 27, 2023
Achondrogenesis type II8Oct 27, 2023
Achondroplasia2Mar 16, 2023
Achromatopsia 25Dec 26, 2023
Achromatopsia 34Jan 26, 2024
Acrocallosal syndrome1Nov 10, 2022
Action myoclonus-renal failure syndrome1Nov 14, 2023
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins36Jan 26, 2024
Acute intermittent porphyria1Oct 27, 2023
Adams-Oliver syndrome 22Mar 16, 2023
Adams-Oliver syndrome 51Oct 13, 2022
Adenylosuccinate lyase deficiency3Oct 2, 2023
Adrenoleukodystrophy24Jan 26, 2024
Agammaglobulinemia 8, autosomal dominant1Jul 25, 2023
Age related macular degeneration 71Aug 30, 2022
Agenesis of the corpus callosum with peripheral neuropathy6May 17, 2023
Aicardi Goutieres syndrome16Jan 26, 2024
Aicardi-Goutieres syndrome 14Jun 21, 2023
Aicardi-Goutieres syndrome 61Aug 25, 2023
Al-Raqad syndrome2Mar 16, 2023
Alexander disease3Nov 14, 2023
Alkaline ceramidase 3 deficiency1Mar 6, 2020
Alkuraya-Kucinskas syndrome2Oct 2, 2023
Allan-Herndon-Dudley syndrome1Aug 5, 2021
Alpha thalassemia-X-linked intellectual disability syndrome6Feb 6, 2023
Alpha-1-antitrypsin deficiency3Mar 16, 2023
Alpha-N-acetylgalactosaminidase deficiency type 21Jul 1, 2020
Alstrom syndrome29Jan 26, 2024
Alternating hemiplegia of childhood 11Dec 14, 2022
Alzahrani-Kuwahara syndrome2Nov 14, 2023
Alzheimer disease1Jan 26, 2024
Alzheimer disease 37Oct 27, 2023
Amelocerebrohypohidrotic syndrome1Dec 14, 2022
Aminoacylase 1 deficiency1Dec 26, 2023
Amyloid Cardiomyopathy, Transthyretin-related1Aug 18, 2011
Amyloidogenic transthyretin amyloidosis21May 19, 2021
Amyotrophic lateral sclerosis type 11Dec 26, 2023
Amyotrophic lateral sclerosis type 41Sep 14, 2022
Amyotrophic lateral sclerosis type 91Sep 14, 2022
Androgen resistance syndrome2Jun 21, 2023
Anemia, nonspherocytic hemolytic, due to G6PD deficiency2Apr 27, 2021
Anhidrotic ectodermal dysplasia4Dec 26, 2023
Apparent mineralocorticoid excess1Aug 18, 2011
Arginase deficiency4Oct 2, 2023
Arginine:glycine amidinotransferase deficiency1Nov 16, 2021
Argininosuccinate lyase deficiency34Oct 2, 2023
Aromatase deficiency1May 17, 2023
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1Nov 16, 2021
Arrhythmogenic right ventricular cardiomyopathy7Sep 24, 2019
Arterial tortuosity syndrome4Dec 26, 2023
Arthrogryposis, distal, type 2B21Oct 2, 2023
Aspartylglucosaminuria10Aug 25, 2023
Asphyxiating thoracic dystrophy 21Dec 31, 2020
Asphyxiating thoracic dystrophy 34Jan 26, 2024
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome4Jul 25, 2023
Ataxia-telangiectasia syndrome181Jan 26, 2024
Ataxia-telangiectasia-like disorder1Mar 6, 2020
Atrial septal defect1Nov 20, 2015
Atrial septal defect 73Apr 11, 2018
Atypical glycine encephalopathy2Oct 2, 2023
Autism spectrum disorder - epilepsy - arthrogryposis syndrome3Sep 14, 2022
Autism spectrum disorder due to AUTS2 deficiency1Sep 14, 2022
Autism, susceptibility to, 171Dec 14, 2022
Autism, susceptibility to, 51Jul 7, 2021
Autosomal dominant Parkinson disease 82Nov 14, 2023
Autosomal dominant epilepsy15Dec 26, 2023
Autosomal dominant hypocalcemia2Jan 6, 2022
Autosomal dominant hypophosphatemic rickets2Aug 18, 2011
Autosomal dominant isolated somatotropin deficiency1Aug 18, 2011
Autosomal dominant nocturnal frontal lobe epilepsy 31Jun 21, 2023
Autosomal recessive Alport syndrome38Jan 26, 2024
Autosomal recessive DOPA responsive dystonia12Oct 2, 2023
Autosomal recessive ataxia due to ubiquinone deficiency2Nov 14, 2023
Autosomal recessive axonal neuropathy with neuromyotonia1Jun 21, 2023
Autosomal recessive distal renal tubular acidosis3Jan 26, 2024
Autosomal recessive hypophosphatemic bone disease1Jan 11, 2023
Autosomal recessive inherited pseudoxanthoma elasticum1Apr 19, 2022
Autosomal recessive juvenile Parkinson disease 23Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy127Jan 26, 2024
Autosomal recessive limb-girdle muscular dystrophy type 2J8Nov 14, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2X1Nov 10, 2022
Autosomal recessive non-syndromic intellectual disability2Oct 2, 2023
Autosomal recessive nonsyndromic hearing loss 18B1Apr 14, 2023
Autosomal recessive nonsyndromic hearing loss 1A54Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 222Nov 14, 2023
Autosomal recessive nonsyndromic hearing loss 251Dec 2, 2020
Autosomal recessive nonsyndromic hearing loss 291Jul 29, 2022
Autosomal recessive nonsyndromic hearing loss 35Dec 26, 2023
Autosomal recessive nonsyndromic hearing loss 791Jul 15, 2022
Autosomal recessive nonsyndromic hearing loss 85Jan 26, 2024
Autosomal recessive nonsyndromic hearing loss 84A1Apr 14, 2023
Autosomal recessive nonsyndromic hearing loss 91Oct 6, 2020
Autosomal recessive polycystic kidney disease103Jan 26, 2024
Autosomal recessive primary microcephaly20Jan 26, 2024
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1Aug 25, 2023
Autosomal recessive spastic paraplegia type 761Jan 26, 2024
Autosomal recessive spinocerebellar ataxia 101Nov 14, 2023
Autosomal recessive spinocerebellar ataxia 171Feb 6, 2023
Autosomal recessive spinocerebellar ataxia 182Nov 10, 2022
Autosomal recessive spinocerebellar ataxia 201Oct 27, 2023
Autosomal recessive titinopathy1Jun 21, 2023
Axenfeld-Rieger syndrome type 11Feb 9, 2022
BRSK2-Related Disorders1Jan 26, 2024
Bailey-Bloch congenital myopathy1Sep 14, 2022
Baller-Gerold syndrome3Sep 1, 2021
Baraitser-Winter syndrome 11Jul 29, 2022
Bardet-Biedl syndrome104Jan 26, 2024
Bardet-Biedl syndrome 104Mar 6, 2020
Bardet-Biedl syndrome 191Dec 26, 2023
Bardet-Biedl syndrome 23Apr 24, 2019
Bartter syndrome16Jul 25, 2023
Benign scapuloperoneal muscular dystrophy with cardiomyopathy1Oct 13, 2022
Bernard Soulier syndrome5Jan 26, 2024
Bernard-Soulier syndrome, type A2, autosomal dominant1Jul 25, 2023
Beta thalassemia intermedia11Oct 2, 2023
Beta-D-mannosidosis14Oct 2, 2023
Beta-hydroxyisobutyryl-CoA deacylase deficiency1Dec 26, 2023
Beta-thalassemia major6Apr 19, 2022
Bethlem myopathy 21Nov 14, 2023
Bifunctional peroxisomal enzyme deficiency16Jul 25, 2023
Bilateral frontoparietal polymicrogyria2Oct 2, 2023
Biotin-responsive basal ganglia disease1Apr 14, 2023
Biotinidase deficiency28Jan 26, 2024
Birt-Hogg-Dube syndrome9Aug 25, 2023
Bloom syndrome37Nov 14, 2023
Bohring-Opitz syndrome6Oct 13, 2022
Bosch-Boonstra-Schaaf optic atrophy syndrome1Mar 6, 2020
Brachydactyly type B11Oct 27, 2023
Brachydactyly type E21Aug 5, 2021
Brain small vessel disease 1 with or without ocular anomalies4Jan 26, 2024
Branchiootic syndrome 31Aug 30, 2022
Brittle cornea syndrome 111May 17, 2023
Brittle cornea syndrome 25Apr 14, 2023
Brown-Vialetto-van Laere syndrome 11Feb 6, 2023
Brown-Vialetto-van Laere syndrome 22Jul 25, 2023
Brugada syndrome (shorter-than-normal QT interval)11Jan 26, 2024
Bryant-Li-Bhoj neurodevelopmental syndrome 21Dec 26, 2023
C1orf69-Related Disorders1Feb 6, 2023
C1orf69/IBA57-Related Disorders1Oct 13, 2022
C2-related disorders1Oct 27, 2023
C3 deficiency1Jun 21, 2023
CCDC88C-Related Disorders1Apr 14, 2023
CD36-Related Disorders3Oct 2, 2023
CEP152-Related Disorders2Aug 25, 2023
CEP290-Related Disorders27Jan 26, 2024
CFH-Related Disorders1May 12, 2022
CHARGE association4Jan 26, 2024
CHD8-Related Disorders2Oct 2, 2023
CHIME syndrome1Oct 13, 2022
CLCN2-Related Disorders3Jul 25, 2023
CODAS syndrome1Feb 6, 2023
COG5-congenital disorder of glycosylation2Dec 26, 2023
COG6-ongenital disorder of glycosylation1Feb 9, 2022
COG8-congenital disorder of glycosylation1Mar 11, 2022
COL7A1-related disorders12Jan 26, 2024
COL9A1-Related Disorders2Sep 14, 2022
CUL3-Related Disorders1Oct 13, 2022
Canavan Disease, Familial Form27Oct 27, 2023
Capillary malformation-arteriovenous malformation 21Dec 26, 2023
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Jul 15, 2022
Cardiac arrhythmia69Jan 26, 2024
Cardiac valvular defect, developmental1Dec 31, 2020
Cardio-facio-cutaneous syndrome18May 17, 2023
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11Jun 21, 2023
Cardiomyopathy139Dec 26, 2023
Cardiomyopathy, dilated, 2D1Jul 25, 2023
Cardiovascular phenotype30Apr 24, 2019
Carney complex1Dec 2, 2020
Carnitine acylcarnitine translocase deficiency16Oct 27, 2023
Carnitine palmitoyl transferase 1A deficiency3Apr 14, 2023
Carnitine palmitoyltransferase II deficiency19May 17, 2023
Carpenter syndrome6Jan 26, 2024
Catecholaminergic polymorphic ventricular tachycardia2Apr 27, 2021
Catecholaminergic polymorphic ventricular tachycardia 12Oct 2, 2023
Catel-Manzke syndrome2Jan 11, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 11Mar 16, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 22Jul 25, 2023
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 41Dec 14, 2022
Cerebellar atrophy, visual impairment, and psychomotor retardation;1Mar 11, 2022
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1Jan 6, 2022
Cerebral cavernous malformation 22Dec 26, 2023
Cerebro facio thoracic dysplasia1Nov 14, 2023
Cerebrooculofacioskeletal syndrome 12Aug 25, 2023
Cerebrooculofacioskeletal syndrome 32Nov 10, 2022
Cerebroretinal microangiopathy with calcifications and cysts 18Oct 27, 2023
Channelopathy-associated congenital insensitivity to pain, autosomal recessive1Oct 27, 2023
Charcot-Marie-Tooth disease X-linked dominant 11Dec 26, 2023
Charcot-Marie-Tooth disease axonal type 2CC1Jan 11, 2023
Charcot-Marie-Tooth disease axonal type 2S5Nov 14, 2023
Charcot-Marie-Tooth disease axonal type 2T4Jan 26, 2024
Charcot-Marie-Tooth disease type 41Apr 24, 2019
Charcot-Marie-Tooth disease type 4A5Oct 27, 2023
Charcot-Marie-Tooth disease type 4B11Nov 14, 2023
Charcot-Marie-Tooth disease type 4B21Dec 26, 2023
Charcot-Marie-Tooth disease type 4C2Oct 27, 2023
Charcot-Marie-Tooth disease type 4J3Aug 25, 2023
Charlevoix-Saguenay spastic ataxia41Dec 26, 2023
Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome1Nov 10, 2022
Cholestanol storage disease14Jan 26, 2024
Chorea-acanthocytosis1Jul 25, 2023
Chronic granulomatous disease13Oct 2, 2023
Chuvash polycythemia2Jan 11, 2023
Ciliary dyskinesia, primary, 401Oct 13, 2022
Citrullinemia17Oct 2, 2023
Citrullinemia type I15May 13, 2020
Citrullinemia type II12Oct 27, 2023
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency4Apr 14, 2023
Classic lissencephaly1Dec 26, 2023
Cleidocranial dysostosis1Mar 6, 2020
Cobalamin C disease54Jan 26, 2024
Cockayne syndrome24Jan 26, 2024
Coenzyme Q10 deficiency, primary, 12Nov 10, 2022
Coffin-Lowry syndrome2Jul 29, 2022
Coffin-Siris syndrome2May 17, 2023
Coffin-Siris syndrome 121Jan 26, 2024
Coffin-Siris syndrome 82Feb 6, 2023
Cohen syndrome42Jan 26, 2024
Cold-induced sweating syndrome3Aug 25, 2023
Collagen 6-related myopathy2Jul 15, 2022
Colorectal carcinoma1Nov 10, 2022
Combined deficiency of sialidase AND beta galactosidase8Oct 2, 2023
Combined immunodeficiency due to DOCK8 deficiency1Dec 26, 2023
Combined immunodeficiency with skin granulomas1Nov 20, 2015
Combined malonic and methylmalonic acidemia10May 17, 2023
Combined oxidative phosphorylation defect type 111Jul 29, 2022
Combined oxidative phosphorylation defect type 172Aug 25, 2023
Combined oxidative phosphorylation defect type 206Jan 26, 2024
Combined oxidative phosphorylation defect type 242Dec 26, 2023
Combined oxidative phosphorylation defect type 262Jan 11, 2023
Combined oxidative phosphorylation defect type 72Jan 11, 2023
Combined oxidative phosphorylation deficiency 281Nov 14, 2023
Combined oxidative phosphorylation deficiency 322Oct 27, 2023
Combined oxidative phosphorylation deficiency 361Feb 6, 2023
Combined oxidative phosphorylation deficiency 401Oct 27, 2023
Combined oxidative phosphorylation deficiency 442Jun 21, 2023
Combined pituitary hormone deficiencies, genetic form8Dec 26, 2023
Common variable immunodeficiency4Mar 11, 2022
Complex cortical dysplasia with other brain malformations 12Jan 11, 2023
Complex cortical dysplasia with other brain malformations 21Jul 25, 2023
Congenital adrenal hyperplasia77Jan 26, 2024
Congenital adrenal hypoplasia, X-linked3Apr 27, 2021
Congenital afibrinogenemia1Jan 26, 2024
Congenital amegakaryocytic thrombocytopenia18Jan 26, 2024
Congenital bilateral aplasia of vas deferens from CFTR mutation11Jan 26, 2024
Congenital bile acid synthesis defect 21Nov 14, 2023
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1Dec 26, 2023
Congenital contractures of the limbs and face, hypotonia, and developmental delay2Jan 26, 2024
Congenital disorder of deglycosylation5Jan 26, 2024
Congenital disorder of glycosylation type 1E1May 17, 2023
Congenital disorder of glycosylation type I1May 12, 2022
Congenital disorder of glycosylation with defective fucosylation1May 12, 2022
Congenital dyserythropoietic anemia, type II3Dec 26, 2023
Congenital factor VII deficiency5Dec 26, 2023
Congenital generalized lipodystrophy1Jan 26, 2024
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder1May 13, 2020
Congenital heart defects, multiple types, 22Oct 27, 2023
Congenital heart disease2Nov 20, 2015
Congenital heart disease (variable)3Mar 6, 2020
Congenital hyperammonemia, type I30Jan 26, 2024
Congenital isolated adrenocorticotropic hormone deficiency1May 12, 2022
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type7May 17, 2023
Congenital lipoid adrenal hyperplasia due to STAR deficency8Oct 2, 2023
Congenital long QT syndrome2Mar 6, 2020
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome11Oct 27, 2023
Congenital multicore myopathy with external ophthalmoplegia2Feb 6, 2023
Congenital muscular dystrophy due to LMNA mutation1Nov 20, 2015
Congenital muscular hypertrophy-cerebral syndrome1May 17, 2023
Congenital myasthenic syndrome43Jan 26, 2024
Congenital myasthenic syndrome 2C1Nov 10, 2022
Congenital myopathy 231May 12, 2022
Congenital myopathy 2c, severe infantile, autosomal dominant1May 17, 2023
Congenital myopathy with fiber type disproportion1Aug 5, 2021
Congenital myotonia, autosomal recessive form15Jan 26, 2024
Congenital nonprogressive myopathy with Moebius and Robin sequences2Jan 26, 2024
Congenital secretory diarrhea, chloride type1Oct 2, 2023
Corneal dystrophy-perceptive deafness syndrome9Oct 27, 2023
Cornelia de Lange syndrome 53Jan 26, 2024
Cortical dysplasia, complex, with other brain malformations 92Nov 14, 2023
Cortical dysplasia-focal epilepsy syndrome4Apr 14, 2023
Costello syndrome7Oct 2, 2023
Cowden syndrome16Jan 26, 2024
Cranioectodermal dysplasia 11Oct 27, 2023
Craniofrontonasal syndrome1May 13, 2020
Creatine transporter deficiency7Nov 14, 2023
Crigler-Najjar syndrome1Oct 27, 2023
Cutaneous porphyria1Jul 25, 2023
Cutis laxa9Feb 6, 2023
Cutis laxa, autosomal recessive, type 1B3Apr 14, 2023
Cystic fibrosis393Jan 26, 2024
Cystic fibrosis-gastritis-megaloblastic anemia syndrome1May 19, 2021
Cystinosis27Oct 27, 2023
Cystinuria1May 17, 2023
Cytochrome-c oxidase deficiency disease1Oct 2, 2023
D-2-hydroxyglutaric aciduria 11Dec 2, 2020
D-Glyceric aciduria2Jan 11, 2023
DGUOK-Related Disorders3Oct 27, 2023
DNA ligase IV deficiency4Nov 14, 2023
DNAJC6-Related Disorders1Jan 26, 2024
DPAGT1-congenital disorder of glycosylation2Mar 16, 2023
DYNC1H1-related disorders1Jun 21, 2023
DYRK1A-related intellectual disability syndrome1Apr 27, 2021
Danon disease1Jul 29, 2022
DeSanto-Shinawi syndrome due to WAC point mutation2Nov 14, 2023
Deafness with labyrinthine aplasia, microtia, and microdontia1Apr 19, 2022
Deficiency of 2-methylbutyryl-CoA dehydrogenase6Jan 26, 2024
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase68Jan 26, 2024
Deficiency of acetyl-CoA acetyltransferase20Aug 25, 2023
Deficiency of alpha-mannosidase25Jul 25, 2023
Deficiency of aromatic-L-amino-acid decarboxylase6Jan 26, 2024
Deficiency of beta-ureidopropionase3Oct 27, 2023
Deficiency of butyryl-CoA dehydrogenase7Dec 26, 2023
Deficiency of butyrylcholinesterase13Dec 26, 2023
Deficiency of cytochrome-b5 reductase1Oct 2, 2023
Deficiency of galactokinase5Jul 25, 2023
Deficiency of guanidinoacetate methyltransferase13May 17, 2023
Deficiency of hyaluronoglucosaminidase1Mar 16, 2023
Deficiency of hydroxymethylglutaryl-CoA lyase13Aug 25, 2023
Deficiency of iodide peroxidase7Nov 14, 2023
Deficiency of ribose-5-phosphate isomerase4Dec 26, 2023
Deficiency of steroid 17-alpha-monooxygenase3Aug 25, 2023
Dent disease3Nov 14, 2023
Developmental and epileptic encephalopathy 891Apr 14, 2023
Developmental and epileptic encephalopathy 942Nov 10, 2022
Developmental and epileptic encephalopathy, 11Jan 26, 2024
Developmental and epileptic encephalopathy, 131Apr 14, 2023
Developmental and epileptic encephalopathy, 251Aug 25, 2023
Developmental and epileptic encephalopathy, 291Dec 26, 2023
Developmental and epileptic encephalopathy, 42Jul 25, 2023
Developmental and epileptic encephalopathy, 428Jan 26, 2024
Developmental and epileptic encephalopathy, 481Aug 25, 2023
Developmental and epileptic encephalopathy, 491Jan 11, 2023
Developmental and epileptic encephalopathy, 511Nov 14, 2023
Developmental and epileptic encephalopathy, 541Aug 25, 2023
Developmental and epileptic encephalopathy, 771Apr 14, 2023
Developmental delay and seizures with or without movement abnormalities1May 12, 2022
Developmental delay with autism spectrum disorder and gait instability2Jan 26, 2024
Developmental delay with short stature, dysmorphic facial features, and sparse hair 11Dec 26, 2023
Developmental delay with variable intellectual impairment and behavioral abnormalities2Oct 13, 2022
Developmental delay with variable neurologic and brain abnormalities1Oct 27, 2023
Developmental delay, impaired speech, and behavioral abnormalities1Oct 2, 2023
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Jun 21, 2023
Dias-Logan syndrome1Oct 22, 2021
Dihydropteridine reductase deficiency7Jul 25, 2023
Dihydropyrimidine dehydrogenase deficiency29Dec 26, 2023
Dominant beta-thalassemia5Aug 25, 2023
Donnai-Barrow syndrome2Oct 13, 2022
Dopa-responsive dystonia due to sepiapterin reductase deficiency1Mar 6, 2020
Dyskeratosis congenita10Aug 25, 2023
EEF1A2-related disorders1Feb 26, 2021
ELOVL4-Related Disorders2Dec 26, 2023
ENG-Related Disorders2Oct 27, 2023
ENPP1-Related Disorders1Oct 27, 2023
ERF-Related Disorders2Jul 25, 2023
Early Infantile Epileptic Encephalopathy, Autosomal Recessive2Jul 25, 2023
Early infantile epileptic encephalopathy with suppression bursts1Nov 10, 2022
Early-onset coronary artery disease6Jun 21, 2023
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome3Mar 16, 2023
Ectodermal dysplasia and immunodeficiency 16Jan 25, 2018
Ehlers-Danlos syndrome8Dec 26, 2023
Ehlers-Danlos syndrome due to tenascin-X deficiency2Jan 26, 2024
Ehlers-Danlos syndrome, dermatosparaxis type3Dec 14, 2022
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type2Oct 27, 2023
Ehlers-Danlos syndrome, kyphoscoliotic type 11Jun 21, 2023
Ehlers-Danlos syndrome, musculocontractural type2Oct 22, 2021
Ehlers-Danlos syndrome, spondylodysplastic type, 11Dec 26, 2023
Ehlers-Danlos syndrome, type 49Jun 21, 2023
Eichsfeld type congenital muscular dystrophy14Jan 26, 2024
Elliptocytosis 21Apr 19, 2022
Ellis-van Creveld syndrome4Oct 2, 2023
Emery-Dreifuss muscular dystrophy3Aug 5, 2021
Emery-Dreifuss muscular dystrophy 1, X-linked1Oct 27, 2023
Emery-Dreifuss muscular dystrophy 4, autosomal dominant6Oct 2, 2023
Encephalopathy due to GLUT1 deficiency2Dec 26, 2023
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11Oct 27, 2023
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 11Jun 21, 2023
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome2Nov 14, 2023
Epidermolysis bullosa dystrophica4Oct 2, 2023
Epilepsy, familial focal, with variable foci 12Nov 14, 2023
Epilepsy, familial focal, with variable foci 32Apr 14, 2023
Epilepsy, progressive myoclonic, 1B1Dec 26, 2023
Epiphyseal dysplasia, multiple, 21Jan 26, 2024
Episodic ataxia type 11Jul 29, 2022
Episodic kinesigenic dyskinesia 13Dec 26, 2023
Ethylmalonic encephalopathy11Apr 14, 2023
FAM38B-Related Disorders1Jan 26, 2024
FARS2-Related Disorders2Jan 26, 2024
FGD1-Related Disorders1Dec 26, 2023
FGFR1-Related Disorders2Nov 14, 2023
Fabry disease148Dec 26, 2023
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome1Dec 21, 2021
Factor I deficiency2Jan 26, 2024
Factor XIII, A subunit, deficiency of2Oct 27, 2023
Familial Atypical Hemolytic-Uremic Syndrome4Aug 25, 2023
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome1Apr 19, 2022
Familial Mediterranean fever26Apr 14, 2023
Familial X-linked hypophosphatemic vitamin D refractory rickets14Dec 26, 2023
Familial adenomatous polyposis 238Oct 27, 2023
Familial aortopathy31Dec 26, 2023
Familial cancer of breast34May 13, 2020
Familial dysautonomia13Nov 14, 2023
Familial dysfibrinogenemia11Jan 26, 2024
Familial ectopia lentis3Feb 6, 2023
Familial exudative vitreoretinopathy2Feb 6, 2023
Familial hemophagocytic lymphohistiocytosis37Jan 26, 2024
Familial hypercholesterolemia148Jan 26, 2024
Familial hyperinsulinism47Dec 26, 2023
Familial hypoaldosteronism1Oct 2, 2023
Familial hypoalphalipoproteinemia1May 12, 2022
Familial hypocalciuric hypercalcemia52Jan 26, 2024
Familial hypokalemia-hypomagnesemia16Jan 26, 2024
Familial hypoparathyroidism3Jan 26, 2024
Familial isolated arrhythmogenic right ventricular dysplasia29Oct 27, 2023
Familial isolated deficiency of vitamin E9Sep 14, 2022
Familial melanoma15Nov 14, 2023
Familial multiple polyposis syndrome90Dec 26, 2023
Familial partial lipodystrophy, Dunnigan type1Jul 25, 2023
Familial prostate carcinoma7Nov 14, 2023
Familial spontaneous pneumothorax3Apr 24, 2019
Familial temporal lobe epilepsy 71May 17, 2023
Familial thoracic aortic aneurysm and aortic dissection4Oct 2, 2023
Familial thyroid dyshormonogenesis 11Aug 25, 2023
Fanconi anemia71Jan 26, 2024
Fanconi anemia complementation group C29Apr 14, 2023
Fanconi anemia complementation group J7Aug 25, 2023
Fanconi-Bickel syndrome1Aug 25, 2023
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 33Mar 16, 2023
Filippi syndrome1Jan 26, 2024
Finnish congenital nephrotic syndrome56Jan 26, 2024
Floating-Harbor syndrome1May 17, 2023
Focal segmental glomerulosclerosis 91Jun 21, 2023
Fraser syndrome 116Jan 26, 2024
Frontotemporal dementia and/or amyotrophic lateral sclerosis 41Feb 9, 2022
Fructose-biphosphatase deficiency3Dec 26, 2023
Fucosidosis10Oct 27, 2023
Fumarase deficiency1Apr 24, 2019
G6PD deficiency6Dec 26, 2023
GBE1-Related Disorders1Jul 25, 2023
GEMIN5-Related Disorders2Aug 5, 2021
GM1 gangliosidosis17Oct 2, 2023
GM3 synthase deficiency1Aug 25, 2023
GMPPB-Related Disorders4Nov 14, 2023
GNB5-Related Disorders2Nov 10, 2022
GNE myopathy15Nov 14, 2023
GOSR2-Related Disorders1Jun 21, 2023
GRACILE syndrome10Oct 2, 2023
GRN-Related Disorders1Dec 26, 2023
GTP cyclohydrolase I deficiency2Apr 14, 2023
Galactosylceramide beta-galactosidase deficiency44Jan 26, 2024
Gastrointestinal defect and immunodeficiency syndrome7May 17, 2023
Gaucher disease76Dec 26, 2023
Generalized epilepsy with febrile seizures plus3Nov 20, 2015
Generalized juvenile polyposis/juvenile polyposis coli8Dec 2, 2020
Glanzmann thrombasthenia 12Oct 27, 2023
Glanzmann thrombasthenia 22Jul 25, 2023
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1Apr 29, 2020
Global developmental delay with speech and behavioral abnormalities1Jun 21, 2023
Glucocorticoid deficiency 11Feb 6, 2023
Glucocorticoid deficiency with achalasia7Dec 26, 2023
Glucose-6-phosphate transport defect31Dec 26, 2023
Glutamate formiminotransferase deficiency1Nov 14, 2023
Glutaric aciduria, type 151Jan 26, 2024
Glutaryl-CoA oxidase deficiency2Nov 14, 2023
Gluthathione synthetase deficiency11Apr 14, 2023
Glycogen phosphorylase kinase deficiency19Jan 26, 2024
Glycogen storage disease IIIa7May 19, 2021
Glycogen storage disease IIIb1Jan 25, 2018
Glycogen storage disease IXa11Apr 24, 2019
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA31Oct 27, 2023
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1Apr 14, 2023
Glycogen storage disease type III37Jan 26, 2024
Glycogen storage disease type X2Oct 27, 2023
Glycogen storage disease, type II134Nov 14, 2023
Glycogen storage disease, type IV12Oct 2, 2023
Glycogen storage disease, type V20Jan 26, 2024
Glycogen storage disease, type VI4Oct 2, 2023
Glycogen storage disease, type VII3May 17, 2023
Glycogen storage disorder due to hepatic glycogen synthase deficiency3Jun 21, 2023
Glycosylphosphatidylinositol biosynthesis defect 151Oct 13, 2022
Gonadotropin-independent familial sexual precocity3Aug 18, 2011
Gorlin syndrome3Jan 11, 2023
Granulomatous disease, chronic, X-linked22Jan 26, 2024
Griscelli syndrome type 22Sep 14, 2022
Growth hormone insensitivity syndrome2Nov 14, 2023
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy1Oct 27, 2023
HK1-Related Disorders1Aug 25, 2023
HOXD13-Related Disorders1Dec 26, 2023
HPRT1-Related Disorders2Jan 26, 2024
HTRA1-related cerebral small vessel disease1Nov 14, 2023
Harel-Yoon syndrome1Dec 26, 2023
Hearing loss, autosomal recessive 1111Jul 29, 2022
Heart and brain malformation syndrome1Jan 26, 2024
Hemochromatosis type 17Aug 25, 2023
Hemochromatosis type 2A6Jan 26, 2024
Hemochromatosis type 2B1Apr 14, 2023
Hemochromatosis type 31May 17, 2023
Hemoglobin D disease1Mar 6, 2020
Hemoglobinopathy39Jan 26, 2024
Hemolytic anemia due to glucophosphate isomerase deficiency1Jun 21, 2023
Hepatic methionine adenosyltransferase deficiency1Aug 25, 2023
Hepatic veno-occlusive disease-immunodeficiency syndrome1Jul 15, 2022
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 16Nov 14, 2023
Hereditary acrodermatitis enteropathica2Jan 26, 2024
Hereditary antithrombin deficiency2Oct 22, 2021
Hereditary breast ovarian cancer syndrome1467Jan 26, 2024
Hereditary cancer-predisposing syndrome9Jan 25, 2018
Hereditary coproporphyria1May 17, 2023
Hereditary diffuse gastric adenocarcinoma15Jan 26, 2024
Hereditary episodic ataxia1Nov 14, 2023
Hereditary factor IX deficiency disease16Jan 26, 2024
Hereditary factor VIII deficiency disease21Jan 26, 2024
Hereditary factor XI deficiency disease7Dec 26, 2023
Hereditary fructosuria20Aug 25, 2023
Hereditary insensitivity to pain with anhidrosis11Nov 14, 2023
Hereditary leiomyomatosis and renal cell cancer8Oct 2, 2023
Hereditary nonpolyposis colon cancer322Jan 26, 2024
Hereditary pancreatitis19Dec 26, 2023
Hereditary pheochromocytoma-paraganglioma28Nov 14, 2023
Hereditary spastic paraplegia32Jan 26, 2024
Hereditary spastic paraplegia 122Jul 29, 2022
Hereditary spastic paraplegia 151Oct 2, 2023
Hereditary spastic paraplegia 21Dec 26, 2023
Hereditary spastic paraplegia 261Jul 25, 2023
Hereditary spastic paraplegia 301Mar 16, 2023
Hereditary spastic paraplegia 353Nov 14, 2023
Hereditary spastic paraplegia 3A2Jul 25, 2023
Hereditary spastic paraplegia 47Dec 26, 2023
Hereditary spastic paraplegia 451Jul 15, 2022
Hereditary spastic paraplegia 462Dec 31, 2020
Hereditary spastic paraplegia 471Jul 25, 2023
Hereditary spastic paraplegia 481Nov 14, 2023
Hereditary spastic paraplegia 501Dec 26, 2023
Hereditary spastic paraplegia 511Jul 15, 2022
Hereditary spastic paraplegia 542Jul 25, 2023
Hereditary spastic paraplegia 713Dec 26, 2023
Hermansky-Pudlak syndrome34Jan 26, 2024
Hirschsprung disease, susceptibility to, 11Aug 18, 2011
Histiocytic medullary reticulosis5May 13, 2020
Holocarboxylase synthetase deficiency14Aug 25, 2023
Holoprosencephaly 51Apr 14, 2023
Holt-Oram syndrome2Jan 26, 2024
Homocystinuria56Jan 26, 2024
Homocystinuria due to methylene tetrahydrofolate reductase deficiency5Oct 27, 2023
Hyaline fibromatosis syndrome3Oct 2, 2023
Hydrocephalus, nonsyndromic, autosomal recessive 21Jan 26, 2024
Hydrolethalus syndrome2Mar 16, 2023
Hyper-IgE recurrent infection syndrome 1, autosomal dominant11Nov 14, 2023
Hyper-IgE syndrome3Apr 24, 2019
Hyper-IgM syndrome type 15Feb 6, 2023
Hyper-IgM syndrome type 23Jan 26, 2024
Hyper-IgM syndrome type 52Aug 18, 2011
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1Sep 14, 2022
Hypercalcemia, infantile, 13Mar 16, 2023
Hypercholesterolemia, autosomal dominant, type B1Dec 26, 2023
Hypercholesterolemia, familial, 115Aug 18, 2011
Hyperimmunoglobulin D with periodic fever2Jan 26, 2024
Hyperimmunoglobulin M syndrome2Mar 6, 2020
Hyperinsulinemic hypoglycemia, familial, 112Oct 27, 2023
Hyperlipoproteinemia, type I6Jan 11, 2023
Hyperlysinemia2Dec 26, 2023
Hypermanganesemia with dystonia 21Jun 21, 2023
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase1Jul 25, 2023
Hyperornithinemia7Jul 25, 2023
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome3Oct 27, 2023
Hyperphenylalaninemia9Jan 25, 2018
Hyperphosphatasia with intellectual disability syndrome 21Jun 21, 2023
Hyperphosphatasia with intellectual disability syndrome 41Jan 11, 2023
Hyperproinsulinemia1Sep 14, 2022
Hyperprolinemia type 21Jun 21, 2023
Hypogonadotropic hypogonadism 1 with or without anosmia1Oct 6, 2020
Hypogonadotropic hypogonadism 14 with or without anosmia1Mar 6, 2020
Hypogonadotropic hypogonadism 3 with or without anosmia2Nov 14, 2023
Hypogonadotropic hypogonadism 5 with or without anosmia2Jun 21, 2023
Hypogonadotropic hypogonadism 7 with or without anosmia5Oct 2, 2023
Hypogonadotropic hypogonadism 8 with or without anosmia1Nov 14, 2023
Hypohidrotic X-linked ectodermal dysplasia1Mar 11, 2022
Hypokalemic periodic paralysis1Dec 14, 2022
Hypomyelinating leukodystrophy 102Dec 26, 2023
Hypomyelinating leukodystrophy 21Oct 13, 2022
Hypomyelinating leukodystrophy 32Dec 26, 2023
Hypomyelinating leukodystrophy 62Aug 25, 2023
Hypomyelinating leukodystrophy 91Oct 2, 2023
Hypomyelination and Congenital Cataract2May 17, 2023
Hypophosphatasia65Jan 26, 2024
Hypothyroidism due to TSH receptor mutations2Dec 26, 2023
Hypotonia, ataxia, and delayed development syndrome1Nov 14, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 23Oct 2, 2023
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32Mar 6, 2020
IFN-gamma receptor 1 deficiency1Jan 25, 2018
IFT172-Related Disorders1Apr 19, 2022
ITGA2B-Related Disorders1May 17, 2023
Ichthyosis linearis circumflexa1Jan 26, 2024
Ichthyosis vulgaris1Feb 9, 2021
Idiopathic basal ganglia calcification 12Dec 14, 2022
Idiopathic growth hormone deficiency4Aug 18, 2011
Idiopathic nephrotic syndrome8Apr 14, 2023
Imerslund-Grasbeck syndrome type 11Oct 27, 2023
Immunodeficiency 106, susceptibility to viral infections1Oct 2, 2023
Immunodeficiency, common variable, 22Aug 18, 2011
Immunodeficiency, common variable, 71Aug 25, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 12Jan 11, 2023
Immunodeficiency-centromeric instability-facial anomalies syndrome 22Apr 14, 2023
Immunoglobulin-mediated membranoproliferative glomerulonephritis1Dec 31, 2020
Incontinentia pigmenti syndrome1Aug 6, 2020
Infantile epileptic dyskinetic encephalopathy3Apr 14, 2023
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency1Mar 11, 2022
Insulin-dependent diabetes mellitus secretory diarrhea syndrome3Aug 30, 2022
Intellectual developmental disorder 611Nov 16, 2021
Intellectual developmental disorder 621Nov 10, 2022
Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities1Aug 25, 2023
Intellectual developmental disorder with dysmorphic facies and ptosis2Jan 26, 2024
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Mar 6, 2020
Intellectual developmental disorder with or without epilepsy or cerebellar ataxia1Apr 14, 2023
Intellectual developmental disorder with seizures and language delay2Oct 27, 2023
Intellectual developmental disorder, autosomal recessive 671Mar 16, 2023
Intellectual developmental disorder, autosomal recessive 691Jun 21, 2023
Intellectual developmental disorder, autosomal recessive 721Apr 29, 2020
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly1Oct 2, 2023
Intellectual disability, X-linked 1024Oct 13, 2022
Intellectual disability, X-linked 1071Jul 29, 2022
Intellectual disability, X-linked 411May 12, 2022
Intellectual disability, X-linked 91Jun 21, 2023
Intellectual disability, X-linked 991Dec 14, 2022
Intellectual disability, X-linked syndromic, Turner type2Aug 25, 2023
Intellectual disability, X-linked, syndromic 331May 17, 2023
Intellectual disability, X-linked, syndromic, Bain type1Jul 29, 2022
Intellectual disability, X-linked, with or without seizures, arx-related3Aug 25, 2023
Intellectual disability, autosomal dominant 141Aug 30, 2022
Intellectual disability, autosomal dominant 201Jul 29, 2022
Intellectual disability, autosomal dominant 241Apr 19, 2022
Intellectual disability, autosomal dominant 391Nov 14, 2023
Intellectual disability, autosomal dominant 431Nov 14, 2023
Intellectual disability, autosomal dominant 471Apr 24, 2019
Intellectual disability, autosomal dominant 51Nov 14, 2023
Intellectual disability, autosomal dominant 522Oct 27, 2023
Intellectual disability, autosomal dominant 61Mar 6, 2020
Intellectual disability, autosomal dominant 81May 12, 2022
Intellectual disability, autosomal dominant 92Jul 15, 2022
Intellectual disability, autosomal recessive 131Nov 10, 2022
Intellectual disability, autosomal recessive 181Feb 9, 2021
Intellectual disability, autosomal recessive 272Dec 26, 2023
Intellectual disability, autosomal recessive 31Jan 11, 2023
Intellectual disability, autosomal recessive 341Jan 26, 2024
Intellectual disability, autosomal recessive 432Jan 11, 2023
Intellectual disability, autosomal recessive 461Dec 31, 2020
Intellectual disability, autosomal recessive 533Dec 26, 2023
Intellectual disability, autosomal recessive 581Apr 19, 2022
Intellectual disability, autosomal recessive 651Aug 5, 2021
Intellectual disability, autosomal recessive 72Dec 26, 2023
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jul 1, 2020
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome1Apr 7, 2021
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome2Jan 26, 2024
Intellectual disability-severe speech delay-mild dysmorphism syndrome3Sep 9, 2020
Interferon gamma receptor deficiency6Aug 18, 2011
Interstitial lung disease due to ABCA3 deficiency6Jan 26, 2024
Iodotyrosine deiodination defect1Aug 25, 2023
Isolated growth hormone deficiency, type 42Oct 27, 2023
Isovaleryl-CoA dehydrogenase deficiency11Nov 14, 2023
Jervell and Lange-Nielsen syndrome1Jan 26, 2024
Joubert syndrome 23Nov 16, 2021
Joubert syndrome 212Dec 26, 2023
Joubert syndrome 261Apr 14, 2023
Joubert syndrome 331Jan 26, 2024
Joubert syndrome 381Apr 19, 2022
Joubert syndrome 63Oct 2, 2023
Joubert syndrome and related disorders142Jan 26, 2024
Junctional epidermolysis bullosa32Nov 14, 2023
Junctional epidermolysis bullosa gravis of Herlitz13May 13, 2020
Junctional epidermolysis bullosa, non-Herlitz type3Mar 6, 2020
Juvenile polyposis syndrome6Jan 11, 2023
Juvenile retinoschisis2Jun 21, 2023
KARS1-Related Disorders1Dec 26, 2023
KCNQ2-Related Disorders2Oct 27, 2023
KIF5A-Related Disorders1Dec 14, 2022
KRIT1-Related Disorders1Dec 26, 2023
Kabuki syndrome 12Oct 2, 2023
Kabuki syndrome 21Oct 2, 2023
Kleefstra syndrome 11Dec 31, 2020
Kleefstra syndrome 23Aug 25, 2023
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome3Oct 27, 2023
Knobloch syndrome 11Jun 21, 2023
Koolen-de Vries syndrome1Oct 13, 2022
L-2-hydroxyglutaric aciduria3Nov 14, 2023
L-ferritin deficiency1Sep 14, 2022
L1 syndrome14Oct 2, 2023
LAMA2-related muscular dystrophy18Oct 27, 2023
LIPE-related familial partial lipodystrophy1Jan 26, 2024
Lamellar ichthyosis64Jan 26, 2024
Landau-Kleffner syndrome1May 19, 2021
Larsen syndrome1Sep 14, 2022
Laryngo-onycho-cutaneous syndrome1Jul 15, 2022
Leber congenital amaurosis53Jan 26, 2024
Left ventricular noncompaction1Dec 14, 2022
Legius syndrome2Jul 25, 2023
Leigh syndrome75Dec 26, 2023
Leri-Weill dyschondrosteosis4Nov 14, 2023
Lethal arthrogryposis-anterior horn cell disease syndrome1Jun 21, 2023
Lethal congenital contracture syndrome 111Dec 26, 2023
Lethal congenital contracture syndrome 22Oct 27, 2023
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome1May 17, 2023
Lethal multiple pterygium syndrome9Dec 26, 2023
Lethal osteosclerotic bone dysplasia1Nov 14, 2023
Leukocyte adhesion deficiency type II1Dec 26, 2023
Leukodystrophy and acquired microcephaly with or without dystonia;1